Linked Data
ClinVar Variation Id:
3069840
ClinVar RCV Id:
RCV004009872
dbSNP Id:
rs749013931
ExAC:
10:90695138 GA / G
gnomAD v2:
10-90695138-GA-G
gnomAD v3:
10-88935381-GA-G
gnomAD v4:
10-88935381-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88935386del , CM000672.2:g.88935386del | GRCh38 |
| NC_000010.10:g.90695143del , CM000672.1:g.90695143del | GRCh37 |
| NC_000010.9:g.90685123del | NCBI36 |
| NG_011541.1:g.61009del , LRG_781:g.61009del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415557.2:c.991-16del (ACTA2) | ENSP00000396730.2:n.991-16del | |
| ENST00000458159.6:c.991-16del (ACTA2) | ENSP00000398239.2:n.991-16del | |
| ENST00000480297.6:n.2587-16del (ACTA2) | ||
| ENST00000224784.10:c.991-16del (ACTA2) MANE Select | ENSP00000224784.6:n.991-16del | |
| ENST00000371927.7:c.1254+12950del (STAMBPL1) | ENSP00000360995.3:n.1254+12950del | |
| ENST00000458208.5:c.991-16del (ACTA2) | ENSP00000402373.1:n.991-16del | |
| NM_001141945.1:c.991-16del , LRG_781t2:c.991-16del (ACTA2) | NP_001135417.1:n.991-16del | |
| NM_001613.2:c.991-16del , LRG_781t1:c.991-16del (ACTA2) | NP_001604.1:n.991-16del | |
| NR_125373.1:n.1011del (ACTA2-AS1) | ||
| XM_011540016.1:c.991-16del (ACTA2) | XP_011538318.1:n.991-16del | |
| NM_001141945.2:c.991-16del (ACTA2) | NP_001135417.1:n.991-16del | |
| NM_001320855.1:c.991-16del (ACTA2) | NP_001307784.1:n.991-16del | |
| NM_001613.3:c.991-16del (ACTA2) | NP_001604.1:n.991-16del | |
| NM_001613.4:c.991-16del (ACTA2) MANE Select | NP_001604.1:n.991-16del |