Canonical Allele Identifier: CA10587711

Gene: ACTA2

Identifiers and link-outs to other resources

• ClinVar Variation Id: 264311
• ClinVar RCV Id: RCV000247106 ; RCV000645627 ; RCV000771179
• dbSNP Id: rs746972765
• MyVariant Identifiers: chr10:g.90701009C>T (hg19) ; chr10:g.88941252C>T (hg38)
• PubMed: PMID:25759435

User contributed link-outs

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88941252C>T , CM000672.2:g.88941252C>T	GRCh38
NC_000010.10:g.90701009C>T , CM000672.1:g.90701009C>T	GRCh37
NC_000010.9:g.90690989C>T	NCBI36
NG_011541.1:g.55139G>A , LRG_781:g.55139G>A

Transcript Alleles

HGVS	Amino-acid change
NM_001141945.1:c.593G>A , LRG_781t2:c.593G>A	NP_001135417.1:p.Arg198His
NM_001613.2:c.593G>A , LRG_781t1:c.593G>A	NP_001604.1:p.Arg198His
XM_011540016.1:c.593G>A	XP_011538318.1:p.Arg198His
NM_001141945.2:c.593G>A VV	NP_001135417.1:p.Arg198His
NM_001320855.1:c.593G>A VV	NP_001307784.1:p.Arg198His
NM_001613.3:c.593G>A VV	NP_001604.1:p.Arg198His
NM_001613.4:c.593G>A VV MANE Preferred	NP_001604.1:p.Arg198His
ENST00000224784.10:c.593G>A	ENSP00000224784.6:p.Arg198His
ENST00000371927.7:c.1254+18816C>T	ENSP00000360995.3:p.=
ENST00000458208.5:c.593G>A	ENSP00000402373.1:p.Arg198His
ENST00000480297.5:n.633G>A