Linked Data
ClinVar Variation Id:
18278
dbSNP Id:
rs121434528
gnomAD v2:
10-90699300-G-A
gnomAD v3:
10-88939543-G-A
gnomAD v4:
10-88939543-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88939543G>A , CM000672.2:g.88939543G>A | GRCh38 |
| NC_000010.10:g.90699300G>A , CM000672.1:g.90699300G>A | GRCh37 |
| NC_000010.9:g.90689280G>A | NCBI36 |
| NG_011541.1:g.56848C>T , LRG_781:g.56848C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415557.2:c.772C>T (ACTA2) | ENSP00000396730.2:p.Arg258Cys | |
| ENST00000458159.6:c.772C>T (ACTA2) | ENSP00000398239.2:p.Arg258Cys | |
| ENST00000480297.6:n.2368C>T (ACTA2) | ||
| ENST00000224784.10:c.772C>T (ACTA2) MANE Select | ENSP00000224784.6:p.Arg258Cys | |
| ENST00000371927.7:c.1254+17107G>A (STAMBPL1) | ENSP00000360995.3:n.1254+17107G>A | |
| ENST00000458208.5:c.772C>T (ACTA2) | ENSP00000402373.1:p.Arg258Cys | |
| NM_001141945.1:c.772C>T , LRG_781t2:c.772C>T (ACTA2) | NP_001135417.1:p.Arg258Cys | |
| NM_001613.2:c.772C>T , LRG_781t1:c.772C>T (ACTA2) | NP_001604.1:p.Arg258Cys | |
| NR_125373.1:n.1612G>A (ACTA2-AS1) | ||
| XM_011540016.1:c.772C>T (ACTA2) | XP_011538318.1:p.Arg258Cys | |
| NM_001141945.2:c.772C>T (ACTA2) | NP_001135417.1:p.Arg258Cys | |
| NM_001320855.1:c.772C>T (ACTA2) | NP_001307784.1:p.Arg258Cys | |
| NM_001613.3:c.772C>T (ACTA2) | NP_001604.1:p.Arg258Cys | |
| NM_001613.4:c.772C>T (ACTA2) MANE Select | NP_001604.1:p.Arg258Cys |