Linked Data
ClinVar Variation Id:
301505
dbSNP Id:
rs886047452
gnomAD v2:
10-90694937-T-C
gnomAD v3:
10-88935180-T-C
gnomAD v4:
10-88935180-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88935180T>C , CM000672.2:g.88935180T>C | GRCh38 |
| NC_000010.10:g.90694937T>C , CM000672.1:g.90694937T>C | GRCh37 |
| NC_000010.9:g.90684917T>C | NCBI36 |
| NG_011541.1:g.61211A>G , LRG_781:g.61211A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415557.2:c.*43A>G (ACTA2) | ENSP00000396730.2:n.*43A>G | |
| ENST00000458159.6:c.*43A>G (ACTA2) | ENSP00000398239.2:n.*43A>G | |
| ENST00000480297.6:n.2773A>G (ACTA2) | ||
| ENST00000224784.10:c.*43A>G (ACTA2) MANE Select | ENSP00000224784.6:n.*43A>G | |
| ENST00000371927.7:c.1254+12744T>C (STAMBPL1) | ENSP00000360995.3:n.1254+12744T>C | |
| ENST00000458208.5:c.*43A>G (ACTA2) | ENSP00000402373.1:n.*43A>G | |
| NM_001141945.1:c.*43A>G , LRG_781t2:c.*43A>G (ACTA2) | NP_001135417.1:n.*43A>G | |
| NM_001613.2:c.*43A>G , LRG_781t1:c.*43A>G (ACTA2) | NP_001604.1:n.*43A>G | |
| NR_125373.1:n.805T>C (ACTA2-AS1) | ||
| XM_011540016.1:c.*43A>G (ACTA2) | XP_011538318.1:n.*43A>G | |
| NM_001141945.2:c.*43A>G (ACTA2) | NP_001135417.1:n.*43A>G | |
| NM_001320855.1:c.*43A>G (ACTA2) | NP_001307784.1:n.*43A>G | |
| NM_001613.3:c.*43A>G (ACTA2) | NP_001604.1:n.*43A>G | |
| NM_001613.4:c.*43A>G (ACTA2) MANE Select | NP_001604.1:n.*43A>G |