Canonical Allele Identifier: CA007012
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199674
dbSNP Id: rs794728027

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88939552C>T , CM000672.2:g.88939552C>T GRCh38
NC_000010.10:g.90699309C>T , CM000672.1:g.90699309C>T GRCh37
NC_000010.9:g.90689289C>T NCBI36
NG_011541.1:g.56839G>A , LRG_781:g.56839G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000415557.2:c.763G>A (ACTA2) ENSP00000396730.2:p.Glu255Lys
ENST00000458159.6:c.763G>A (ACTA2) ENSP00000398239.2:p.Glu255Lys
ENST00000480297.6:n.2359G>A (ACTA2)
ENST00000224784.10:c.763G>A (ACTA2) MANE Select ENSP00000224784.6:p.Glu255Lys
ENST00000371927.7:c.1254+17116C>T (STAMBPL1) ENSP00000360995.3:n.1254+17116C>T
ENST00000458208.5:c.763G>A (ACTA2) ENSP00000402373.1:p.Glu255Lys
NM_001141945.1:c.763G>A , LRG_781t2:c.763G>A (ACTA2) NP_001135417.1:p.Glu255Lys
NM_001613.2:c.763G>A , LRG_781t1:c.763G>A (ACTA2) NP_001604.1:p.Glu255Lys
NR_125373.1:n.1621C>T (ACTA2-AS1)
XM_011540016.1:c.763G>A (ACTA2) XP_011538318.1:p.Glu255Lys
NM_001141945.2:c.763G>A (ACTA2) NP_001135417.1:p.Glu255Lys
NM_001320855.1:c.763G>A (ACTA2) NP_001307784.1:p.Glu255Lys
NM_001613.3:c.763G>A (ACTA2) NP_001604.1:p.Glu255Lys
NM_001613.4:c.763G>A (ACTA2) MANE Select NP_001604.1:p.Glu255Lys