Canonical Allele Identifier: CA377512162
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI
MyVariant.info:
Revel Score:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88941309C>A , CM000672.2:g.88941309C>A GRCh38
NC_000010.10:g.90701066C>A , CM000672.1:g.90701066C>A GRCh37
NC_000010.9:g.90691046C>A NCBI36
NG_011541.1:g.55082G>T , LRG_781:g.55082G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.536G>T (ACTA2) ENSP00000396730.2:p.Arg179Leu
ENST00000458159.6:c.536G>T (ACTA2) ENSP00000398239.2:p.Arg179Leu
ENST00000480297.6:n.602G>T (ACTA2)
ENST00000224784.10:c.536G>T (ACTA2) MANE Select ENSP00000224784.6:p.Arg179Leu
ENST00000371927.7:c.1254+18873C>A (STAMBPL1) ENSP00000360995.3:n.1254+18873C>A
ENST00000458208.5:c.536G>T (ACTA2) ENSP00000402373.1:p.Arg179Leu
ENST00000480297.5:n.576G>T (ACTA2)
NM_001141945.1:c.536G>T , LRG_781t2:c.536G>T (ACTA2) NP_001135417.1:p.Arg179Leu
NM_001613.2:c.536G>T , LRG_781t1:c.536G>T (ACTA2) NP_001604.1:p.Arg179Leu
XM_011540016.1:c.536G>T (ACTA2) XP_011538318.1:p.Arg179Leu
NM_001141945.2:c.536G>T (ACTA2) NP_001135417.1:p.Arg179Leu
NM_001320855.1:c.536G>T (ACTA2) NP_001307784.1:p.Arg179Leu
NM_001613.3:c.536G>T (ACTA2) NP_001604.1:p.Arg179Leu
NM_001613.4:c.536G>T (ACTA2) MANE Select NP_001604.1:p.Arg179Leu