ATP2A2 variants in ExAC

ATP2A2 gene summary
ATP2A2 variants in

The table below lists the ATP2A2 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. 110777078 c.1420-8C>G splice site 0.00762208●●●●●●
2. 110734406 c.327A>G p.E109E splice site 0.00729879●●●●●●
3. 110783996 c.2860-10_2860-9delTG splice site 0.00393701●●●●●●
4. 110784091 c.2945C>T p.T982M missense 0.00173814●●●●●●
5. 110719688 c.94C>T p.L32F missense 0.00047762●●●●●●
6. 110771091 c.1287+3A>G splice site 0.00028838●●●●●●
7. 110764188 c.545-7C>T splice site 0.00025022●●●●●●
8. 110783800 c.2742-6C>T splice site 0.00014826●●●●●●
9. 110729912 c.307A>G p.I103V missense 0.00013191●●●●●●
10. 110788098 c.2982A>C p.A994A splice site 0.00012358●●●●●●
11. 110780256 c.2318+3A>G splice site 0.00010129●●●●●●
12. 110783861 c.2797G>A p.V933M missense 0.00009884●●●●●●
13. 110770402 c.1096A>G p.M366V missense 0.00008237●●●●●●
14. 110719619 c.25G>C p.V9L missense 0.00008033●●●●●●
15. 110734550 c.463+8_463+9delGA splice site 0.00006593●●●●●●
16. 110778614 c.1912A>G p.I638V missense 0.00006591●●●●●●
17. 110777083 c.1420-3T>C splice site 0.00005768●●●●●●
18. 110719673 c.79G>C p.E27Q missense 0.00004781●●●●●●
19. 110719711 c.117C>T p.N39N splice site 0.00004235●●●●●●
20. 110764230 c.580G>A p.V194I missense 0.00004220●●●●●●
21. 110719614 c.20A>C p.K7T missense 0.00004207●●●●●●
22. 110719616 c.22A>T p.T8S missense 0.00004147●●●●●●
23. 110771826 c.1297G>A p.V433M missense 0.00004120●●●●●●
24. 110778609 c.1907G>A p.R636H missense 0.00004120●●●●●●
25. 110771865 c.1336A>G p.T446A missense 0.00004119●●●●●●
26. 110783862 c.2798T>C p.V933A missense 0.00004118●●●●●●
27. 110719634 c.40G>A p.G14S missense 0.00003394●●●●●●
28. 110778701 c.1999G>T p.D667Y missense 0.00003299●●●●●●
29. 110734541 c.462T>C splice site 0.00003296●●●●●●
30. 110778612 c.1910G>A p.R637H missense 0.00003296●●●●●●
31. 110720512 c.137-6T>C splice site 0.00003295●●●●●●
32. 110777491 c.1726C>T p.H576Y missense 0.00002491●●●●●●
33. 110778761 c.2059G>A p.V687I missense 0.00002480●●●●●●
34. 110778758 c.2056A>G p.I686V missense 0.00002479●●●●●●
35. 110778479 c.1777G>A p.V593I missense 0.00002477●●●●●●
36. 110778720 c.2018G>A p.R673H missense 0.00002475●●●●●●
37. 110771096 c.1287+8T>C splice site 0.00002472●●●●●●
38. 110778645 c.1943C>T p.T648M missense 0.00002472●●●●●●
39. 110778543 c.1841G>A p.R614Q missense 0.00002472●●●●●●
40. 110778626 c.1924G>A p.G642R missense 0.00002472●●●●●●
41. 110720541 c.160A>C p.I54L missense 0.00002472●●●●●●
42. 110783151 c.2705T>C p.V902A missense 0.00002471●●●●●●
43. 110783099 c.2653G>A p.V885M missense 0.00002471●●●●●●
44. 110765353 c.631-5C>T splice site 0.00002471●●●●●●
45. 110719679 c.85G>A p.V29I missense 0.00002271●●●●●●
46. 110778806 c.2097+7A>G splice site 0.00001701●●●●●●
47. 110764212 c.562A>G p.I188V missense 0.00001697●●●●●●
48. 110777494 c.1729C>G p.L577V missense 0.00001666●●●●●●
49. 110777468 c.1703A>G p.N568S missense 0.00001654●●●●●●
50. 110760791 c.464-6A>T splice site 0.00001652●●●●●●
51. 110760847 c.514A>G p.T172A missense 0.00001650●●●●●●
52. 110778719 c.2017C>T p.R673C missense 0.00001650●●●●●●
53. 110777392 c.1627A>G p.K543E missense 0.00001650●●●●●●
54. 110729914 c.309T>G p.I103M missense 0.00001649●●●●●●
55. 110781222 c.2504G>A p.R835H missense 0.00001648●●●●●●
56. 110784133 c.2980+7A>T splice site 0.00001648●●●●●●
57. 110778558 c.1856G>A p.R619Q missense 0.00001648●●●●●●
58. 110771817 c.1288G>A p.A430T missense 0.00001648●●●●●●
59. 110720511 c.137-7C>T splice site 0.00001648●●●●●●
60. 110778530 c.1828G>A p.V610M missense 0.00001648●●●●●●
61. 110781206 c.2488G>A p.G830R missense 0.00001648●●●●●●
62. 110788099 c.2983A>G p.I995V missense 0.00001648●●●●●●
63. 110771901 c.1372G>A p.E458K missense 0.00001648●●●●●●
64. 110782702 c.2533G>A p.A845T missense 0.00001647●●●●●●
65. 110783085 c.2639C>T p.P880L missense 0.00001647●●●●●●
66. 110765566 c.839A>G p.N280S missense 0.00001647●●●●●●
67. 110765523 c.796C>G p.L266V missense 0.00001647●●●●●●
68. 110720607 c.219+7A>G splice site 0.00000928●●●●●●
69. 110764189 c.545-6G>A splice site 0.00000888●●●●●●
70. 110764196 c.546T>G splice site 0.00000870●●●●●●
71. 110765807 c.1080G>C p.Q360H missense 0.00000860●●●●●●
72. 110777532 c.1761+6C>T splice site 0.00000851●●●●●●
73. 110778806 c.2097+7A>T splice site 0.00000850●●●●●●
74. 110764243 c.593G>A p.R198Q missense 0.00000848●●●●●●
75. 110764230 c.580G>T p.V194F missense 0.00000844●●●●●●
76. 110720592 c.211A>G p.I71V missense 0.00000841●●●●●●
77. 110777305 c.1543-3C>T splice site 0.00000832●●●●●●
78. 110780237 c.2302G>A p.V768I missense 0.00000831●●●●●●
79. 110778780 c.2078T>C p.F693S missense 0.00000831●●●●●●
80. 110778782 c.2080G>C p.D694H missense 0.00000831●●●●●●
81. 110781242 c.2521+3G>A splice site 0.00000829●●●●●●
82. 110778777 c.2075C>G p.S692C missense 0.00000829●●●●●●
83. 110777480 c.1715G>A p.R572K missense 0.00000828●●●●●●
84. 110778467 c.1765A>T p.N589Y missense 0.00000827●●●●●●
85. 110777468 c.1703A>C p.N568T missense 0.00000827●●●●●●
86. 110778468 c.1766A>G p.N589S missense 0.00000827●●●●●●
87. 110760791 c.464-6A>G splice site 0.00000826●●●●●●
88. 110781233 c.2515A>G p.I839V missense 0.00000826●●●●●●
89. 110777371 c.1606A>G p.M536V missense 0.00000826●●●●●●
90. 110777371 c.1606A>T p.M536L missense 0.00000826●●●●●●
91. 110765698 c.971G>A p.R324H missense 0.00000826●●●●●●
92. 110760876 c.543A>C splice site 0.00000826●●●●●●
93. 110777437 c.1672C>A p.L558M missense 0.00000825●●●●●●
94. 110760821 c.488T>C p.I163T missense 0.00000825●●●●●●
95. 110780216 c.2281C>T p.R761C missense 0.00000825●●●●●●
96. 110760868 c.535A>G p.I179V missense 0.00000825●●●●●●
97. 110778699 c.1997G>A p.R666Q missense 0.00000825●●●●●●
98. 110765604 c.877A>G p.I293V missense 0.00000824●●●●●●
99. 110784049 c.2903T>C p.M968T missense 0.00000824●●●●●●
100. 110783920 c.2856G>T p.L952F missense 0.00000824●●●●●●
101. 110778633 c.1931A>T p.D644V missense 0.00000824●●●●●●
102. 110778570 c.1868T>C p.I623T missense 0.00000824●●●●●●
103. 110780028 c.2098-5T>G splice site 0.00000824●●●●●●
104. 110777167 c.1501A>G p.N501D missense 0.00000824●●●●●●
105. 110734486 c.407G>A p.S136N missense 0.00000824●●●●●●
106. 110729901 c.296T>C p.V99A missense 0.00000824●●●●●●
107. 110782767 c.2598C>G p.F866L missense 0.00000824●●●●●●
108. 110781156 c.2438T>G p.L813R missense 0.00000824●●●●●●
109. 110780131 c.2196G>T p.M732I missense 0.00000824●●●●●●
110. 110771814 c.1288-3C>T splice site 0.00000824●●●●●●
111. 110784123 c.2977C>T p.P993S missense 0.00000824●●●●●●
112. 110778678 c.1976A>G p.E659G missense 0.00000824●●●●●●
113. 110783930 c.2859+7G>C splice site 0.00000824●●●●●●
114. 110734432 c.353_354insCTT p.Ala118_Leu119insPhe inframe 0.00000824●●●●●●
115. 110770456 c.1150A>G p.I384V missense 0.00000824●●●●●●
116. 110778542 c.1840C>T p.R614W missense 0.00000824●●●●●●
117. 110765436 c.709G>A p.D237N missense 0.00000824●●●●●●
118. 110783852 c.2788A>G p.I930V missense 0.00000824●●●●●●
119. 110771911 c.1382G>A p.G461D missense 0.00000824●●●●●●
120. 110771934 c.1405A>C p.N469H missense 0.00000824●●●●●●
121. 110770480 c.1174A>T p.I392F missense 0.00000824●●●●●●
122. 110720559 c.178T>A p.L60M missense 0.00000824●●●●●●
123. 110780031 c.2098-2A>C essential splice site 0.00000824●●●●●●
124. 110788110 c.2994A>C p.Ter998TyrextTer21 nonsense 0.00000824●●●●●●
125. 110778590 c.1888A>G p.T630A missense 0.00000824●●●●●●
126. 110784078 c.2932C>T p.L978F missense 0.00000824●●●●●●
127. 110782718 c.2549C>T p.A850V missense 0.00000824●●●●●●
128. 110778515 c.1813G>A p.E605K missense 0.00000824●●●●●●
129. 110777182 c.1516A>G p.T506A missense 0.00000824●●●●●●
130. 110771848 c.1319C>T p.A440V missense 0.00000824●●●●●●
131. 110781180 c.2462G>A p.R821Q missense 0.00000824●●●●●●
132. 110720415 c.125C>T p.P42L missense 0.00000824●●●●●●
133. 110782683 c.2522-8G>T splice site 0.00000824●●●●●●
134. 110720513 c.137-5T>C splice site 0.00000824●●●●●●
135. 110784001 c.2860-5G>A splice site 0.00000824●●●●●●
136. 110771089 c.1287+1G>C essential splice site 0.00000824●●●●●●
137. 110783930 c.2859+7G>T splice site 0.00000824●●●●●●
138. 110720515 c.137-3C>A splice site 0.00000824●●●●●●
139. 110788097 c.2981C>T p.A994V missense 0.00000824●●●●●●
140. 110778683 c.1981A>C p.N661H missense 0.00000824●●●●●●
141. 110783909 c.2845G>T p.V949F missense 0.00000824●●●●●●
142. 110765449 c.722C>G p.A241G missense 0.00000824●●●●●●
143. 110784018 c.2872A>G p.I958V missense 0.00000824●●●●●●
144. 110777131 c.1465C>T p.R489C missense 0.00000824●●●●●●
145. 110734444 c.365A>G p.Y122C missense 0.00000824●●●●●●
146. 110771947 c.1418C>T p.S473L missense 0.00000824●●●●●●
147. 110771006 c.1205T>A p.V402E missense 0.00000824●●●●●●
148. 110720510 c.137-8T>C splice site 0.00000824●●●●●●
149. 110770459 c.1153A>G p.T385A missense 0.00000824●●●●●●
150. 110778645 c.1943C>A p.T648K missense 0.00000824●●●●●●
151. 110782683 c.2522-8G>A splice site 0.00000824●●●●●●
152. 110770433 c.1127C>T p.T376I missense 0.00000824●●●●●●
153. 110770394 c.1096-8C>T splice site 0.00000824●●●●●●
154. 110783813 c.2749G>A p.E917K missense 0.00000824●●●●●●
155. 110784109 c.2963G>A p.R988H missense 0.00000824●●●●●●
156. 110777188 c.1522A>T p.M508L missense 0.00000824●●●●●●
157. 110783826 c.2762T>C p.L921S missense 0.00000824●●●●●●
158. 110778522 c.1820C>T p.A607V missense 0.00000824●●●●●●
159. 110781185 c.2467C>T p.P823S missense 0.00000824●●●●●●
160. 110771919 c.1390A>G p.K464E missense 0.00000824●●●●●●
161. 110771889 c.1360G>A p.V454I missense 0.00000824●●●●●●
162. 110770449 c.1143G>C p.E381D missense 0.00000824●●●●●●
163. 110720526 c.145T>G p.L49V missense 0.00000824●●●●●●
164. 110781056 c.2338C>G p.L780V missense 0.00000824●●●●●●
165. 110771090 c.1287+2T>C essential splice site 0.00000824●●●●●●
166. 110788101 c.2985A>G p.I995M missense 0.00000824●●●●●●
167. 110784025 c.2879C>T p.P960L missense 0.00000824●●●●●●
168. 110783912 c.2848G>A p.E950K missense 0.00000824●●●●●●
169. 110782692 c.2523T>G p.C841W missense 0.00000824●●●●●●
170. 110777146 c.1480A>G p.M494V missense 0.00000824●●●●●●
171. 110734457 c.378G>C p.M126I missense 0.00000824●●●●●●
172. 110783058 c.2612A>G p.H871R missense 0.00000824●●●●●●
173. 110729853 c.248A>G p.E83G missense 0.00000824●●●●●●
174. 110780204 c.2269A>C p.K757Q missense 0.00000824●●●●●●
175. 110777216 c.1542+8T>G splice site 0.00000824●●●●●●
176. 110720515 c.137-3C>T splice site 0.00000824●●●●●●
177. 110780090 c.2155A>G p.M719V missense 0.00000824●●●●●●
178. 110784115 c.2969A>G p.Y990C missense 0.00000824●●●●●●
179. 110778666 c.1964G>A p.R655Q missense 0.00000824●●●●●●
180. 110783190 c.2741+3T>C splice site 0.00000824●●●●●●
181. 110770450 c.1144T>C p.F382L missense 0.00000824●●●●●●
182. 110770982 c.1185-4G>A splice site 0.00000824●●●●●●
183. 110765383 c.656C>G p.A219G missense 0.00000824●●●●●●
184. 110783836 c.2772G>A p.M924I missense 0.00000824●●●●●●
185. 110778641 c.1939G>A p.V647M missense 0.00000824●●●●●●
186. 110771923 c.1394T>C p.I465T missense 0.00000824●●●●●●
187. 110770460 c.1154C>G p.T385S missense 0.00000824●●●●●●
188. 110781068 c.2350G>A p.E784K missense 0.00000824●●●●●●
189. 110778522 c.1820_1822delCCT p.Ser609del inframe 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.