Canonical Allele Identifier: CA007017
Gene: ACTA2 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18278
dbSNP Id: rs121434528

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88939543G>A , CM000672.2:g.88939543G>A GRCh38
NC_000010.10:g.90699300G>A , CM000672.1:g.90699300G>A GRCh37
NC_000010.9:g.90689280G>A NCBI36
NG_011541.1:g.56848C>T , LRG_781:g.56848C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224784.10:c.772C>T (ACTA2) MANE Select ENSP00000224784.6:p.Arg258Cys
ENST00000371927.7:c.1254+17107G>A ENSP00000360995.3:p.=
ENST00000458208.5:c.772C>T ENSP00000402373.1:p.Arg258Cys
NM_001141945.1:c.772C>T , LRG_781t2:c.772C>T (ACTA2) NP_001135417.1:p.Arg258Cys
NM_001613.2:c.772C>T , LRG_781t1:c.772C>T (ACTA2) NP_001604.1:p.Arg258Cys
NR_125373.1:n.1612G>A (ACTA2-AS1)
XM_011540016.1:c.772C>T (ACTA2) XP_011538318.1:p.Arg258Cys
NM_001141945.2:c.772C>T (ACTA2) NP_001135417.1:p.Arg258Cys
NM_001320855.1:c.772C>T (ACTA2) NP_001307784.1:p.Arg258Cys
NM_001613.3:c.772C>T (ACTA2) NP_001604.1:p.Arg258Cys
NM_001613.4:c.772C>T (ACTA2) MANE Select NP_001604.1:p.Arg258Cys