gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022081 (AMR)
Genomes Max Group AF
0.00026011 (AMR)
Exomes Max Group AF
0.00015445 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88938205G>A , CM000672.2:g.88938205G>A | GRCh38 |
| NC_000010.10:g.90697962G>A , CM000672.1:g.90697962G>A | GRCh37 |
| NC_000010.9:g.90687942G>A | NCBI36 |
| NG_011541.1:g.58186C>T , LRG_781:g.58186C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415557.2:c.846C>T (ACTA2) | ENSP00000396730.2:p.Asn282= | |
| ENST00000458159.6:c.846C>T (ACTA2) | ENSP00000398239.2:p.Asn282= | |
| ENST00000480297.6:n.2442C>T (ACTA2) | ||
| ENST00000224784.10:c.846C>T (ACTA2) MANE Select | ENSP00000224784.6:p.Asn282= | |
| ENST00000371927.7:c.1254+15769G>A (STAMBPL1) | ENSP00000360995.3:n.1254+15769G>A | |
| ENST00000458208.5:c.846C>T (ACTA2) | ENSP00000402373.1:p.Asn282= | |
| NM_001141945.1:c.846C>T , LRG_781t2:c.846C>T (ACTA2) | NP_001135417.1:p.Asn282= | |
| NM_001613.2:c.846C>T , LRG_781t1:c.846C>T (ACTA2) | NP_001604.1:p.Asn282= | |
| NR_125373.1:n.1199-7G>A (ACTA2-AS1) | ||
| XM_011540016.1:c.846C>T (ACTA2) | XP_011538318.1:p.Asn282= | |
| NM_001141945.2:c.846C>T (ACTA2) | NP_001135417.1:p.Asn282= | |
| NM_001320855.1:c.846C>T (ACTA2) | NP_001307784.1:p.Asn282= | |
| NM_001613.3:c.846C>T (ACTA2) | NP_001604.1:p.Asn282= | |
| NM_001613.4:c.846C>T (ACTA2) MANE Select | NP_001604.1:p.Asn282= |