ACTA2 variants in ExAC

ACTA2 gene summary
ACTA2 variants in

The table below lists the ACTA2 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. 90699265 c.807C>T p.I269I splice site 0.00014011●●●●●●
2. 90697831 c.977C>A p.T326N missense 0.00013192●●●●●●
3. 90708610 c.78C>A p.D26E missense 0.00007417●●●●●●
4. 90697849 c.959C>T p.T320M missense 0.00005769●●●●●●
5. 90701595 c.401T>C p.M134T missense 0.00004877●●●●●●
6. 90703643 c.280A>G p.N94D missense 0.00003298●●●●●●
7. 90697883 c.925C>G p.P309A missense 0.00003296●●●●●●
8. 90703547 c.369+7A>G splice site 0.00002478●●●●●●
9. 90700995 c.607G>A p.V203I missense 0.00002476●●●●●●
10. 90703672 c.259-8C>T splice site 0.00002476●●●●●●
11. 90699375 c.697G>A p.A233T missense 0.00002475●●●●●●
12. 90708550 c.129+9A>C splice site 0.00002472●●●●●●
13. 90701630 c.370-4G>C splice site 0.00002283●●●●●●
14. 90701593 c.403T>C p.Y135H missense 0.00001940●●●●●●
15. 0 c.-23-7T>G splice site 0.00001660●●●●●●
16. 90697835 c.973A>G p.S325G missense 0.00001649●●●●●●
17. 90695027 c.1087G>C p.E363Q missense 0.00001648●●●●●●
18. 90708554 c.129+5G>A splice site 0.00001648●●●●●●
19. 90695002 c.1112T>C p.I371T missense 0.00001648●●●●●●
20. 90699454 c.618T>C splice site 0.00000833●●●●●●
21. 0 c.-23-3T>C splice site 0.00000830●●●●●●
22. 0 c.-23-4A>G splice site 0.00000830●●●●●●
23. 90708715 c.-23-5T>C splice site 0.00000830●●●●●●
24. 90699424 c.648G>C p.E216D missense 0.00000827●●●●●●
25. 90708683 c.5G>A p.C2Y missense 0.00000826●●●●●●
26. 90699400 c.672C>G p.D224E missense 0.00000826●●●●●●
27. 90700979 c.616+7C>T splice site 0.00000826●●●●●●
28. 90695130 c.991-7C>G splice site 0.00000825●●●●●●
29. 90703563 c.360A>T p.K120N missense 0.00000825●●●●●●
30. 90695116 c.998C>T p.A333V missense 0.00000825●●●●●●
31. 90701027 c.575T>C p.M192T missense 0.00000825●●●●●●
32. 90703646 c.277T>A p.Y93N missense 0.00000825●●●●●●
33. 90699394 c.678A>C p.E226D missense 0.00000825●●●●●●
34. 90697827 c.981G>A p.M327I missense 0.00000825●●●●●●
35. 90695127 c.991-4A>C splice site 0.00000825●●●●●●
36. 90703570 c.353G>A p.R118Q missense 0.00000825●●●●●●
37. 90701028 c.574A>G p.M192V missense 0.00000825●●●●●●
38. 90703553 c.369+1G>A essential splice site 0.00000825●●●●●●
39. 90700993 c.609dupT p.Thr204TyrfsTer4 frameshift 0.00000825●●●●●●
40. 90703642 c.281A>G p.N94S missense 0.00000825●●●●●●
41. 90695130 c.991-7delC splice site 0.00000825●●●●●●
42. 90708669 c.19A>G p.S7G missense 0.00000825●●●●●●
43. 90695122 c.992T>G p.I331S missense 0.00000825●●●●●●
44. 90697846 c.962C>G p.A321G missense 0.00000824●●●●●●
45. 90695005 c.1109C>G p.S370C missense 0.00000824●●●●●●
46. 90699305 c.767G>T p.R256L missense 0.00000824●●●●●●
47. 90707144 c.130-1G>C essential splice site 0.00000824●●●●●●
48. 90707099 c.174C>A p.D58E missense 0.00000824●●●●●●
49. 90697916 c.892A>G p.N298D missense 0.00000824●●●●●●
50. 90695084 c.1030G>A p.G344S missense 0.00000824●●●●●●
51. 90695017 c.1097A>G p.E366G missense 0.00000824●●●●●●
52. 90708619 c.69T>G p.F23L missense 0.00000824●●●●●●
53. 90699319 c.753delC p.Ile252SerfsTer34 frameshift 0.00000824●●●●●●
54. 90697887 c.921G>C p.M307I missense 0.00000824●●●●●●
55. 90703627 c.296C>G p.A99G missense 0.00000824●●●●●●
56. 90699323 c.749T>A p.I250N missense 0.00000824●●●●●●
57. 90707099 c.174C>G p.D58E missense 0.00000824●●●●●●
58. 90697981 c.827T>C p.I276T missense 0.00000824●●●●●●
59. 90695107 c.1007A>G p.E336G missense 0.00000824●●●●●●
60. 90695021 c.1093G>A p.D365N missense 0.00000824●●●●●●
61. 90707044 c.229A>G p.I77V missense 0.00000824●●●●●●
62. 90699350 c.722G>T p.S241I missense 0.00000824●●●●●●
63. 90697863 c.945G>A p.M315I missense 0.00000824●●●●●●
64. 90708581 c.107T>C p.I36T missense 0.00000824●●●●●●
65. 90697871 c.937G>A p.D313N missense 0.00000824●●●●●●
66. 90701117 c.485C>T p.T162I missense 0.00000824●●●●●●
67. 90699265 c.807C>G p.I269M missense 0.00000824●●●●●●
68. 90707141 c.132G>T splice site 0.00000824●●●●●●
69. 90695114 c.1000C>T p.P334S missense 0.00000824●●●●●●
70. 90701104 c.498delC p.Ile167SerfsTer26 frameshift 0.00000824●●●●●●
71. 90707062 c.211T>C p.Y71H missense 0.00000824●●●●●●
72. 90699324 c.748A>C p.I250L missense 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.