Canonical Allele Identifier: CA007026

Gene: ACTA2 STAMBPL1 ACTA2-AS1

Linked Data

• ClinVar Variation Id: 18277
• ClinVar RCV Id: RCV000019939 ; RCV000181027 ; RCV000022435 ; RCV003352750
• dbSNP Id: rs121434527
• MyVariant Identifiers: chr10:g.90699299C>T (hg19) ; chr10:g.88939542C>T (hg38)
• PubMed: PMID:17994018 ; PMID:19409525

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88939542C>T , CM000672.2:g.88939542C>T	GRCh38
NC_000010.10:g.90699299C>T , CM000672.1:g.90699299C>T	GRCh37
NC_000010.9:g.90689279C>T	NCBI36
NG_011541.1:g.56849G>A , LRG_781:g.56849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.773G>A (ACTA2)	ENSP00000396730.2:p.Arg258His
ENST00000458159.6:c.773G>A (ACTA2)	ENSP00000398239.2:p.Arg258His
ENST00000480297.6:n.2369G>A (ACTA2)
ENST00000224784.10:c.773G>A (ACTA2) MANE Select	ENSP00000224784.6:p.Arg258His
ENST00000371927.7:c.1254+17106C>T (STAMBPL1)	ENSP00000360995.3:n.1254+17106C>T
ENST00000458208.5:c.773G>A (ACTA2)	ENSP00000402373.1:p.Arg258His
NM_001141945.1:c.773G>A , LRG_781t2:c.773G>A (ACTA2)	NP_001135417.1:p.Arg258His
NM_001613.2:c.773G>A , LRG_781t1:c.773G>A (ACTA2)	NP_001604.1:p.Arg258His
NR_125373.1:n.1611C>T (ACTA2-AS1)
XM_011540016.1:c.773G>A (ACTA2)	XP_011538318.1:p.Arg258His
NM_001141945.2:c.773G>A (ACTA2)	NP_001135417.1:p.Arg258His
NM_001320855.1:c.773G>A (ACTA2)	NP_001307784.1:p.Arg258His
NM_001613.3:c.773G>A (ACTA2)	NP_001604.1:p.Arg258His
NM_001613.4:c.773G>A (ACTA2) MANE Select	NP_001604.1:p.Arg258His