Canonical Allele Identifier: CA006909

Gene: ACTA2 STAMBPL1

Linked Data

• ClinVar Variation Id: 199670
• ClinVar RCV Id: RCV000181019 ; RCV000234479 ; RCV000608387 ; RCV002485186
• dbSNP Id: rs112602953
• ExAC: 10:90703570 C / T
• gnomAD v2: 10-90703570-C-T
• gnomAD v4: 10-88943813-C-T
• MyVariant Identifiers: chr10:g.90703570C>T (hg19) ; chr10:g.88943813C>T (hg38)
• PubMed: PMID:17994018 ; PMID:19409525 ; PMID:21288906 ; PMID:23099432

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88943813C>T , CM000672.2:g.88943813C>T	GRCh38
NC_000010.10:g.90703570C>T , CM000672.1:g.90703570C>T	GRCh37
NC_000010.9:g.90693550C>T	NCBI36
NG_011541.1:g.52578G>A , LRG_781:g.52578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.353G>A (ACTA2)	ENSP00000396730.2:p.Arg118Gln
ENST00000458159.6:c.353G>A (ACTA2)	ENSP00000398239.2:p.Arg118Gln
ENST00000480297.6:n.419G>A (ACTA2)
ENST00000482085.2:n.1834G>A (ACTA2)
ENST00000224784.10:c.353G>A (ACTA2) MANE Select	ENSP00000224784.6:p.Arg118Gln
ENST00000371927.7:c.1254+21377C>T (STAMBPL1)	ENSP00000360995.3:n.1254+21377C>T
ENST00000415557.1:c.353G>A (ACTA2)	ENSP00000396730.1:p.Arg118Gln
ENST00000458159.5:c.353G>A (ACTA2)	ENSP00000398239.1:p.Arg118Gln
ENST00000458208.5:c.353G>A (ACTA2)	ENSP00000402373.1:p.Arg118Gln
ENST00000480297.5:n.393G>A (ACTA2)
NM_001141945.1:c.353G>A , LRG_781t2:c.353G>A (ACTA2)	NP_001135417.1:p.Arg118Gln
NM_001613.2:c.353G>A , LRG_781t1:c.353G>A (ACTA2)	NP_001604.1:p.Arg118Gln
XM_011540016.1:c.353G>A (ACTA2)	XP_011538318.1:p.Arg118Gln
NM_001141945.2:c.353G>A (ACTA2)	NP_001135417.1:p.Arg118Gln
NM_001320855.1:c.353G>A (ACTA2)	NP_001307784.1:p.Arg118Gln
NM_001613.3:c.353G>A (ACTA2)	NP_001604.1:p.Arg118Gln
NM_001613.4:c.353G>A (ACTA2) MANE Select	NP_001604.1:p.Arg118Gln