Canonical Allele Identifier: CA1926602954
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88941110G= , CM000672.2:g.88941110G= GRCh38
NC_000010.10:g.90700867G= , CM000672.1:g.90700867G= GRCh37
NC_000010.9:g.90690847G= NCBI36
NG_011541.1:g.55281C= , LRG_781:g.55281C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.616+119C= (ACTA2) ENSP00000396730.2:n.616+119C=
ENST00000458159.6:c.616+119C= (ACTA2) ENSP00000398239.2:n.616+119C=
ENST00000480297.6:n.801C= (ACTA2)
ENST00000224784.10:c.616+119C= (ACTA2) MANE Select ENSP00000224784.6:n.616+119C=
ENST00000371927.7:c.1254+18674G= (STAMBPL1) ENSP00000360995.3:n.1254+18674G=
ENST00000458208.5:c.616+119C= (ACTA2) ENSP00000402373.1:n.616+119C=
ENST00000480297.5:n.775C= (ACTA2)
NM_001141945.1:c.616+119C= , LRG_781t2:c.616+119C= (ACTA2) NP_001135417.1:n.616+119C=
NM_001613.2:c.616+119C= , LRG_781t1:c.616+119C= (ACTA2) NP_001604.1:n.616+119C=
XM_011540016.1:c.616+119C= (ACTA2) XP_011538318.1:n.616+119C=
NM_001141945.2:c.616+119C= (ACTA2) NP_001135417.1:n.616+119C=
NM_001320855.1:c.616+119C= (ACTA2) NP_001307784.1:n.616+119C=
NM_001613.3:c.616+119C= (ACTA2) NP_001604.1:n.616+119C=
NM_001613.4:c.616+119C= (ACTA2) MANE Select NP_001604.1:n.616+119C=