ANK2 variants in ExAC

ANK2 gene summary
ANK2 variants in

The table below lists the ANK2 variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 114276880 c.7007T>C p.V2336A missense 0.09796952●●●●●●
2. 114278277 c.8404C>T p.P2802S missense 0.09003708●●●●●●
3. 114279674 c.9801C>A p.S3267R missense 0.01882783●●●●●●
4. 114279628 c.9755T>C p.I3252T missense 0.00822760●●●●●●
5. 114214588 c.2377-8C>T splice site 0.00619867●●●●●●
6. 114213561 c.2278-11G>A splice site 0.00597378●●●●●●
7. 114276781 c.6908C>T p.A2303V missense 0.00492180●●●●●●
8. 114276408 c.6535G>A p.G2179S missense 0.00473223●●●●●●
9. 114260488 c.3794+10T>C splice site 0.00329690●●●●●●
10. 114288907 c.11119C>A p.L3707I missense 0.00325456●●●●●●
11. 114209651 c.2277+9C>T splice site 0.00300062●●●●●●
12. 114286207 c.10802T>A p.V3601D missense 0.00273760●●●●●●
13. 114294537 c.11692G>A p.E3898K missense 0.00267018●●●●●●
14. 114276906 c.7033G>A p.E2345K missense 0.00261422●●●●●●
15. 114274518 c.4645C>T p.R1549W missense 0.00216945●●●●●●
16. 114278128 c.8255C>T p.S2752L missense 0.00186978●●●●●●
17. 114278835 c.8962G>A p.A2988T missense 0.00178168●●●●●●
18. 114199722 c.1881+8C>G splice site 0.00166080●●●●●●
19. 114277605 c.7732T>C p.Y2578H missense 0.00148468●●●●●●
20. 114294462 c.11617C>T p.R3873W missense 0.00112113●●●●●●
21. 114279228 c.9355A>G p.T3119A missense 0.00103527●●●●●●
22. 114302617 c.11765A>G p.N3922S missense 0.00097029●●●●●●
23. 114277717 c.7844G>A p.G2615D missense 0.00095773●●●●●●
24. 114278542 c.8669A>G p.Q2890R missense 0.00090668●●●●●●
25. 114239695 c.2819C>G p.A940G missense 0.00086802●●●●●●
26. 114275980 c.6107G>A p.R2036H missense 0.00085888●●●●●●
27. 114284598 c.10762C>G p.L3588V missense 0.00085864●●●●●●
28. 114277041 c.7168G>A p.A2390T missense 0.00078332●●●●●●
29. 114277171 c.7298G>A p.R2433H missense 0.00076712●●●●●●
30. 114214679 c.2460_2462delCAC p.Thr821del inframe 0.00076054●●●●●●
31. 114275950 c.6077C>T p.T2026M missense 0.00071198●●●●●●
32. 114177035 c.1135C>T p.R379C missense 0.00068395●●●●●●
33. 114279060 c.9187A>G p.S3063G missense 0.00066149●●●●●●
34. 114290816 c.11366G>C p.G3789A missense 0.00066088●●●●●●
35. 114170990 c.962G>A p.R321Q missense 0.00064786●●●●●●
36. 114274519 c.4646G>A p.R1549Q missense 0.00063749●●●●●●
37. 114288920 c.11132C>A p.T3711N missense 0.00061799●●●●●●
38. 114275710 c.5837C>T p.S1946L missense 0.00060332●●●●●●
39. 114278014 c.8141G>A p.R2714H missense 0.00058110●●●●●●
40. 114278820 c.8947G>A p.E2983K missense 0.00048657●●●●●●
41. 114278155 c.8282A>G p.Q2761R missense 0.00047899●●●●●●
42. 114276891 c.7018A>G p.T2340A missense 0.00047819●●●●●●
43. 114269433 c.4274A>G p.E1425G missense 0.00042218●●●●●●
44. 114276002 c.6129G>T p.K2043N missense 0.00037143●●●●●●
45. 114294471 c.11626T>C p.S3876P missense 0.00036265●●●●●●
46. 114279599 c.9726T>G p.D3242E missense 0.00035496●●●●●●
47. 114288808 c.11020G>A p.D3674N missense 0.00034636●●●●●●
48. 114294318 c.11584G>A p.V3862M missense 0.00033780●●●●●●
49. 114276436 c.6563G>A p.G2188E missense 0.00029973●●●●●●
50. 114267122 c.4216G>T p.G1406C missense 0.00028853●●●●●●
51. 114290875 c.11425C>T p.R3809W missense 0.00028155●●●●●●
52. 114277651 c.7778C>T p.P2593L missense 0.00025580●●●●●●
53. 114275014 c.5141C>G p.P1714R missense 0.00024913●●●●●●
54. 114290844 c.11394G>T p.E3798D missense 0.00022322●●●●●●
55. 114279697 c.9824C>G p.T3275S missense 0.00021504●●●●●●
56. 114209614 c.2249A>G p.Q750R missense 0.00021439●●●●●●
57. 114278753 c.8880A>G p.I2960M missense 0.00021426●●●●●●
58. 114275964 c.6091T>A p.S2031T missense 0.00020662●●●●●●
59. 114290810 c.11360G>A p.R3787Q missense 0.00020648●●●●●●
60. 114279372 c.9499C>T p.L3167F missense 0.00019823●●●●●●
61. 114278326 c.8453C>T p.P2818L missense 0.00019778●●●●●●
62. 114275283 c.5410G>A p.A1804T missense 0.00019776●●●●●●
63. 114284618 c.10782T>G p.H3594Q missense 0.00018983●●●●●●
64. 114278617 c.8744C>G p.A2915G missense 0.00018975●●●●●●
65. 114276957 c.7084A>C p.T2362P missense 0.00018971●●●●●●
66. 114279300 c.9427G>T p.D3143Y missense 0.00018166●●●●●●
67. 114286282 c.10877G>T p.R3626L missense 0.00018147●●●●●●
68. 114280136 c.10263G>C p.R3421S missense 0.00017427●●●●●●
69. 114274556 c.4683T>G p.I1561M missense 0.00017386●●●●●●
70. 114277861 c.7988C>T p.P2663L missense 0.00017328●●●●●●
71. 114281999 c.10603C>T p.R3535W missense 0.00016813●●●●●●
72. 114275607 c.5734A>T p.T1912S missense 0.00016490●●●●●●
73. 114280063 c.10190A>C p.E3397A missense 0.00015734●●●●●●
74. 114177077 c.1177G>A p.A393T missense 0.00015721●●●●●●
75. 114274230 c.4357G>C p.V1453L missense 0.00014882●●●●●●
76. 114279453 c.9580A>C p.T3194P missense 0.00014874●●●●●●
77. 114251575 c.3074G>C p.G1025A missense 0.00014873●●●●●●
78. 114163351 c.877G>A p.D293N missense 0.00014869●●●●●●
79. 114274585 c.4712G>A p.R1571K missense 0.00014082●●●●●●
80. 114277210 c.7337A>G p.K2446R missense 0.00014031●●●●●●
81. 114278666 c.8793C>G p.I2931M missense 0.00014015●●●●●●
82. 114278421 c.8548T>G p.F2850V missense 0.00014010●●●●●●
83. 114158745 c.670-10A>G splice site 0.00014003●●●●●●
84. 114095617 c.130C>G p.L44V missense 0.00013706●●●●●●
85. 114276415 c.6542C>T p.P2181L missense 0.00013277●●●●●●
86. 114280028 c.10155A>C p.R3385S missense 0.00013224●●●●●●
87. 114158331 c.669+3A>G splice site 0.00013201●●●●●●
88. 114276628 c.6755T>C p.I2252T missense 0.00012769●●●●●●
89. 114264270 c.4121A>G p.K1374R missense 0.00012376●●●●●●
90. 114276922 c.7049C>T p.P2350L missense 0.00012369●●●●●●
91. 114186089 c.1423G>A p.G475R missense 0.00012121●●●●●●
92. 114277918 c.8045C>T p.S2682F missense 0.00011579●●●●●●
93. 114267117 c.4211C>T p.T1404M missense 0.00011542●●●●●●
94. 114278677 c.8804T>C p.V2935A missense 0.00011541●●●●●●
95. 114278739 c.8866G>C p.E2956Q missense 0.00011537●●●●●●
96. 114275425 c.5552C>T p.S1851L missense 0.00011534●●●●●●
97. 114290671 c.11221G>A p.V3741M missense 0.00011086●●●●●●
98. 114280136 c.10263G>T p.R3421S missense 0.00010788●●●●●●
99. 114267066 c.4160C>T p.T1387M missense 0.00010717●●●●●●
100. 114238939 c.2770G>T p.D924Y missense 0.00009965●●●●●●
101. 114208825 c.2144C>T p.T715I missense 0.00009943●●●●●●
102. 114288749 c.10961G>C p.C3654S missense 0.00009925●●●●●●
103. 114279627 c.9754A>C p.I3252L missense 0.00009912●●●●●●
104. 114274755 c.4882A>G p.K1628E missense 0.00009905●●●●●●
105. 114286251 c.10846A>G p.M3616V missense 0.00009893●●●●●●
106. 114239712 c.2836C>T p.R946C missense 0.00009720●●●●●●
107. 114186045 c.1387-8C>T splice site 0.00009152●●●●●●
108. 114290873 c.11423C>T p.P3808L missense 0.00009108●●●●●●
109. 114279654 c.9781A>C p.N3261H missense 0.00009090●●●●●●
110. 114279456 c.9583G>A p.V3195M missense 0.00009089●●●●●●
111. 114199662 c.1829A>T p.K610M missense 0.00009065●●●●●●
112. 114275917 c.6044A>G p.Q2015R missense 0.00008327●●●●●●
113. 114279198 c.9325A>C p.T3109P missense 0.00008300●●●●●●
114. 114286282 c.10877G>A p.R3626H missense 0.00008249●●●●●●
115. 114177036 c.1136G>T p.R379L missense 0.00008240●●●●●●
116. 114203859 c.1910C>T p.A637V missense 0.00008237●●●●●●
117. 114262966 c.3917C>T p.P1306L missense 0.00008237●●●●●●
118. 114282005 c.10609G>A p.E3537K missense 0.00007926●●●●●●
119. 114275005 c.5132C>A p.A1711D missense 0.00007478●●●●●●
120. 114279615 c.9742C>G p.Q3248E missense 0.00007433●●●●●●
121. 114277745 c.7872C>G p.S2624R missense 0.00007432●●●●●●
122. 114275145 c.5272G>A p.V1758I missense 0.00007425●●●●●●
123. 114280321 c.10448T>C p.I3483T missense 0.00007421●●●●●●
124. 114153311 c.385-6C>T splice site 0.00007418●●●●●●
125. 114278685 c.8812G>A p.V2938I missense 0.00007418●●●●●●
126. 114278701 c.8828C>G p.S2943C missense 0.00007417●●●●●●
127. 114176943 c.1043T>C p.V348A missense 0.00007414●●●●●●
128. 114280096 c.10223G>A p.R3408Q missense 0.00006631●●●●●●
129. 114275532 c.5659G>A p.G1887R missense 0.00006619●●●●●●
130. 114204009 c.2060A>G p.N687S missense 0.00006613●●●●●●
131. 114120160 c.286-7A>G splice site 0.00006607●●●●●●
132. 114275979 c.6106C>T p.R2036C missense 0.00006606●●●●●●
133. 114279563 c.9690G>T p.R3230S missense 0.00006598●●●●●●
134. 114275618 c.5745C>G p.H1915Q missense 0.00006597●●●●●●
135. 114276300 c.6427_6429delACA p.Thr2144del inframe 0.00006596●●●●●●
136. 114278688 c.8815G>A p.V2939I missense 0.00006594●●●●●●
137. 114278692 c.8819T>G p.V2940G missense 0.00006593●●●●●●
138. 114095568 c.85-4G>A splice site 0.00005878●●●●●●
139. 114278013 c.8140C>T p.R2714C missense 0.00005810●●●●●●
140. 114278040 c.8167G>T p.D2723Y missense 0.00005810●●●●●●
141. 114275944 c.6071C>T p.P2024L missense 0.00005801●●●●●●
142. 114269425 c.4273-7C>T splice site 0.00005797●●●●●●
143. 114257137 c.3416G>A p.S1139N missense 0.00005786●●●●●●
144. 114278911 c.9038G>A p.S3013N missense 0.00005780●●●●●●
145. 114276360 c.6487G>A p.G2163S missense 0.00005779●●●●●●
146. 114277232 c.7359C>G p.H2453Q missense 0.00005778●●●●●●
147. 114280347 c.10474G>A p.E3492K missense 0.00005776●●●●●●
148. 114278197 c.8324A>G p.Y2775C missense 0.00005773●●●●●●
149. 114277602 c.7729G>A p.D2577N missense 0.00005773●●●●●●
150. 114277039 c.7166G>A p.S2389N missense 0.00005772●●●●●●
151. 114276838 c.6965C>A p.T2322N missense 0.00005772●●●●●●
152. 114286209 c.10804G>C p.E3602Q missense 0.00005772●●●●●●
153. 114294553 c.11708A>G p.Y3903C missense 0.00005770●●●●●●
154. 114199670 c.1837C>A p.L613M missense 0.00005769●●●●●●
155. 114294284 c.11550_11552delAGA p.Glu3853del inframe 0.00005768●●●●●●
156. 114275344 c.5471T>A p.V1824E missense 0.00005766●●●●●●
157. 114262898 c.3849A>C p.Q1283H missense 0.00005766●●●●●●
158. 114251395 c.2901-7dupT splice site 0.00005414●●●●●●
159. 114276499 c.6626C>T p.T2209M missense 0.00005044●●●●●●
160. 114275878 c.6005C>T p.P2002L missense 0.00005036●●●●●●
161. 114290705 c.11255A>G p.Q3752R missense 0.00005022●●●●●●
162. 114257148 c.3427G>T p.V1143L missense 0.00004964●●●●●●
163. 114161747 c.792+8T>G splice site 0.00004959●●●●●●
164. 114279741 c.9868A>G p.S3290G missense 0.00004959●●●●●●
165. 114278935 c.9062C>G p.A3021G missense 0.00004955●●●●●●
166. 114277273 c.7400C>T p.T2467M missense 0.00004952●●●●●●
167. 114277642 c.7769C>G p.S2590C missense 0.00004950●●●●●●
168. 114277170 c.7297C>T p.R2433C missense 0.00004949●●●●●●
169. 114276333 c.6460T>C p.F2154L missense 0.00004947●●●●●●
170. 114254368 c.3280+4C>T splice site 0.00004944●●●●●●
171. 114186047 c.1387-6T>C splice site 0.00004550●●●●●●
172. 114203823 c.1882-8C>G splice site 0.00004504●●●●●●
173. 114282000 c.10604G>A p.R3535Q missense 0.00004420●●●●●●
174. 114208841 c.2160T>A p.D720E missense 0.00004172●●●●●●
175. 114214645 c.2426T>C p.V809A missense 0.00004156●●●●●●
176. 114290945 c.11495A>G p.D3832G missense 0.00004153●●●●●●
177. 114279157 c.9284G>A p.S3095N missense 0.00004150●●●●●●
178. 114186077 c.1411G>A p.A471T missense 0.00004143●●●●●●
179. 114195789 c.1667A>G p.H556R missense 0.00004142●●●●●●
180. 114290876 c.11426G>A p.R3809Q missense 0.00004141●●●●●●
181. 114269424 c.4273-8G>A splice site 0.00004140●●●●●●
182. 114274806 c.4933G>A p.E1645K missense 0.00004139●●●●●●
183. 114277914 c.8041G>A p.V2681I missense 0.00004135●●●●●●
184. 114279661 c.9788C>T p.P3263L missense 0.00004134●●●●●●
185. 114278964 c.9091C>G p.Q3031E missense 0.00004131●●●●●●
186. 114275524 c.5651C>T p.S1884L missense 0.00004130●●●●●●
187. 114277789 c.7916A>C p.Q2639P missense 0.00004128●●●●●●
188. 114199062 c.1753C>T p.R585C missense 0.00004127●●●●●●
189. 114277290 c.7417C>T p.R2473W missense 0.00004126●●●●●●
190. 114277291 c.7418G>A p.R2473Q missense 0.00004126●●●●●●
191. 114276943 c.7070A>T p.K2357M missense 0.00004124●●●●●●
192. 114276279 c.6406G>A p.V2136I missense 0.00004123●●●●●●
193. 114288823 c.11035G>A p.V3679I missense 0.00004123●●●●●●
194. 114278829 c.8956A>G p.M2986V missense 0.00004123●●●●●●
195. 114278829 c.8956A>T p.M2986L missense 0.00004123●●●●●●
196. 114267184 c.4272+6G>A splice site 0.00004123●●●●●●
197. 114276879 c.7006G>T p.V2336F missense 0.00004122●●●●●●
198. 114179464 c.1288-5C>T splice site 0.00004120●●●●●●
199. 114195686 c.1564C>T p.H522Y missense 0.00004120●●●●●●
200. 114262881 c.3832G>A p.V1278I missense 0.00004119●●●●●●
201. 114158784 c.693+6G>A splice site 0.00004119●●●●●●
202. 114177018 c.1118C>T p.A373V missense 0.00004119●●●●●●
203. 114294309 c.11575G>A p.G3859R missense 0.00004119●●●●●●
204. 114186111 c.1445G>T p.C482F missense 0.00003971●●●●●●
205. 114257725 c.3493-8T>A splice site 0.00003777●●●●●●
206. 114239745 c.2869G>A p.V957M missense 0.00003696●●●●●●
207. 114095627 c.140T>C p.V47A missense 0.00003446●●●●●●
208. 114117566 c.229G>A p.V77M missense 0.00003426●●●●●●
209. 114274864 c.4991G>C p.S1664T missense 0.00003331●●●●●●
210. 114274837 c.4964A>G p.Q1655R missense 0.00003323●●●●●●
211. 114257194 c.3473G>A p.R1158Q missense 0.00003322●●●●●●
212. 114195795 c.1673T>C p.L558S missense 0.00003320●●●●●●
213. 114274831 c.4958A>C p.E1653A missense 0.00003320●●●●●●
214. 114274573 c.4700T>C p.I1567T missense 0.00003313●●●●●●
215. 114274609 c.4736C>T p.T1579I missense 0.00003313●●●●●●
216. 114277940 c.8067G>A p.M2689I missense 0.00003312●●●●●●
217. 114280048 c.10175A>G p.E3392G missense 0.00003311●●●●●●
218. 114274428 c.4555G>A p.V1519I missense 0.00003308●●●●●●
219. 114275958 c.6085G>T p.A2029S missense 0.00003308●●●●●●
220. 114274230 c.4357G>A p.V1453I missense 0.00003307●●●●●●
221. 114274392 c.4519G>C p.A1507P missense 0.00003307●●●●●●
222. 114290750 c.11300A>C p.E3767A missense 0.00003306●●●●●●
223. 114208791 c.2110C>G p.Q704E missense 0.00003305●●●●●●
224. 113970939 c.55A>G p.S19G missense 0.00003305●●●●●●
225. 114278949 c.9076G>T p.V3026L missense 0.00003305●●●●●●
226. 114290821 c.11371C>G p.P3791A missense 0.00003305●●●●●●
227. 114279633 c.9760A>T p.I3254F missense 0.00003304●●●●●●
228. 114284595 c.10759T>A p.W3587R missense 0.00003303●●●●●●
229. 114277890 c.8017G>C p.E2673Q missense 0.00003303●●●●●●
230. 114290809 c.11359C>T p.R3787W missense 0.00003303●●●●●●
231. 114275991 c.6118A>G p.I2040V missense 0.00003303●●●●●●
232. 114279489 c.9616G>A p.V3206I missense 0.00003303●●●●●●
233. 114278161 c.8288C>T p.P2763L missense 0.00003302●●●●●●
234. 114275200 c.5327C>T p.A1776V missense 0.00003300●●●●●●
235. 114179296 c.1279A>G p.I427V missense 0.00003300●●●●●●
236. 114276927 c.7054C>T p.P2352S missense 0.00003299●●●●●●
237. 114278188 c.8315C>T p.P2772L missense 0.00003299●●●●●●
238. 114275661 c.5788G>T p.V1930L missense 0.00003299●●●●●●
239. 114278193 c.8320A>G p.I2774V missense 0.00003299●●●●●●
240. 114278641 c.8768C>G p.S2923C missense 0.00003299●●●●●●
241. 114280336 c.10463C>T p.P3488L missense 0.00003299●●●●●●
242. 114286206 c.10801G>A p.V3601I missense 0.00003298●●●●●●
243. 114275488 c.5615C>T p.S1872L missense 0.00003298●●●●●●
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1220. 114279928 c.10055A>G p.D3352G missense 0.00000824●●●●●●
1221. 114279935 c.10062A>C p.R3354S missense 0.00000824●●●●●●
1222. 114279937 c.10064G>A p.S3355N missense 0.00000824●●●●●●
1223. 114279945 c.10072G>A p.E3358K missense 0.00000824●●●●●●
1224. 114279949 c.10076C>G p.S3359C missense 0.00000824●●●●●●
1225. 114279982 c.10109G>T p.C3370F missense 0.00000824●●●●●●
1226. 114286231 c.10826G>A p.R3609Q missense 0.00000824●●●●●●
1227. 114286252 c.10847T>C p.M3616T missense 0.00000824●●●●●●
1228. 114286257 c.10852A>G p.T3618A missense 0.00000824●●●●●●
1229. 114288839 c.11051T>A p.I3684N missense 0.00000824●●●●●●
1230. 114288842 c.11054C>G p.S3685C missense 0.00000824●●●●●●
1231. 114288860 c.11072T>C p.F3691S missense 0.00000824●●●●●●
1232. 114288866 c.11078A>G p.D3693G missense 0.00000824●●●●●●
1233. 114288883 c.11095G>A p.E3699K missense 0.00000824●●●●●●
1234. 114288919 c.11131A>G p.T3711A missense 0.00000824●●●●●●
1235. 114288931 c.11143C>A p.Q3715K missense 0.00000824●●●●●●
1236. 114294247 c.11513G>A p.G3838E missense 0.00000824●●●●●●
1237. 114294252 c.11518G>A p.D3840N missense 0.00000824●●●●●●
1238. 114294258 c.11524C>G p.P3842A missense 0.00000824●●●●●●
1239. 114294297 c.11563A>G p.I3855V missense 0.00000824●●●●●●
1240. 114294304 c.11570A>G p.E3857G missense 0.00000824●●●●●●
1241. 114294454 c.11609T>A p.I3870N missense 0.00000824●●●●●●
1242. 114294483 c.11638A>C p.T3880P missense 0.00000824●●●●●●
1243. 114294503 c.11658G>A p.M3886I missense 0.00000824●●●●●●
1244. 114294507 c.11662C>T p.Q3888X nonsense 0.00000824●●●●●●
1245. 114294544 c.11699G>A p.G3900E missense 0.00000824●●●●●●
1246. 114294553 c.11708A>C p.Y3903S missense 0.00000824●●●●●●
1247. 114257831 c.3591_3595delCAAAC p.Lys1198AsnfsTer13 frameshift 0.00000824●●●●●●
1248. 114278460 c.8587delT p.Ser2863ProfsTer18 frameshift 0.00000824●●●●●●
1249. 114294331 c.11595+2T>C essential splice site 0.00000824●●●●●●
1250. 114254372 c.3280+8C>T splice site 0.00000824●●●●●●
1251. 114294238 c.11512-8delC splice site 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.