Canonical Allele Identifier: CA006825

Gene: ACTA2 STAMBPL1

Linked Data

• ClinVar Variation Id: 199666
• ClinVar RCV Id: RCV000181015 ; RCV000533011 ; RCV000770644 ; RCV000779683
• dbSNP Id: rs794728021
• COSMIC: COSM921223
• MyVariant Identifiers: chr10:g.90708572C>T (hg19) ; chr10:g.88948815C>T (hg38)
• PubMed: PMID:19409525 ; PMID:24243736 ; PMID:26934405

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88948815C>T , CM000672.2:g.88948815C>T	GRCh38
NC_000010.10:g.90708572C>T , CM000672.1:g.90708572C>T	GRCh37
NC_000010.9:g.90698552C>T	NCBI36
NG_011541.1:g.47576G>A , LRG_781:g.47576G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.116G>A (ACTA2)	ENSP00000396730.2:p.Arg39His
ENST00000458159.6:c.116G>A (ACTA2)	ENSP00000398239.2:p.Arg39His
ENST00000480297.6:n.182G>A (ACTA2)
ENST00000482085.2:n.182G>A (ACTA2)
ENST00000224784.10:c.116G>A (ACTA2) MANE Select	ENSP00000224784.6:p.Arg39His
ENST00000371927.7:c.1255-24367C>T (STAMBPL1)	ENSP00000360995.3:n.1255-24367C>T
ENST00000415557.1:c.116G>A (ACTA2)	ENSP00000396730.1:p.Arg39His
ENST00000458159.5:c.116G>A (ACTA2)	ENSP00000398239.1:p.Arg39His
ENST00000458208.5:c.116G>A (ACTA2)	ENSP00000402373.1:p.Arg39His
ENST00000480297.5:n.156G>A (ACTA2)
ENST00000482085.1:n.182G>A (ACTA2)
ENST00000488967.5:n.182G>A (ACTA2)
NM_001141945.1:c.116G>A , LRG_781t2:c.116G>A (ACTA2)	NP_001135417.1:p.Arg39His
NM_001613.2:c.116G>A , LRG_781t1:c.116G>A (ACTA2)	NP_001604.1:p.Arg39His
XM_011540016.1:c.116G>A (ACTA2)	XP_011538318.1:p.Arg39His
NM_001141945.2:c.116G>A (ACTA2)	NP_001135417.1:p.Arg39His
NM_001320855.1:c.116G>A (ACTA2)	NP_001307784.1:p.Arg39His
NM_001613.3:c.116G>A (ACTA2)	NP_001604.1:p.Arg39His
NM_001613.4:c.116G>A (ACTA2) MANE Select	NP_001604.1:p.Arg39His