Canonical Allele Identifier: CA13226446

Gene: ACTA2 FAS STAMBPL1

Linked Data

• dbSNP Id: rs1926203
• gnomAD v2: 10-90727334-C-A
• gnomAD v3: 10-88967577-C-A
• gnomAD v4: 10-88967577-C-A
• MyVariant Identifiers: chr10:g.90727334C>A (hg19) ; chr10:g.88967577C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88967577C>A , CM000672.2:g.88967577C>A	GRCh38
NC_000010.10:g.90727334C>A , CM000672.1:g.90727334C>A	GRCh37
NC_000010.9:g.90717314C>A	NCBI36
NG_011541.1:g.28814G>T , LRG_781:g.28814G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.-23-18624G>T (ACTA2)	ENSP00000396730.2:n.-23-18624G>T
ENST00000458159.6:c.-23-18624G>T (ACTA2)	ENSP00000398239.2:n.-23-18624G>T
ENST00000688239.1:n.95-5605C>A (FAS)
ENST00000371927.7:c.1255-5605C>A (STAMBPL1)	ENSP00000360995.3:n.1255-5605C>A
ENST00000415557.1:c.-23-18624G>T (ACTA2)	ENSP00000396730.1:n.-23-18624G>T
ENST00000458159.5:c.-23-18624G>T (ACTA2)	ENSP00000398239.1:n.-23-18624G>T
ENST00000458208.5:c.-23-18624G>T (ACTA2)	ENSP00000402373.1:n.-23-18624G>T
NM_001141945.1:c.-23-18624G>T , LRG_781t2:c.-23-18624G>T (ACTA2)	NP_001135417.1:n.-23-18624G>T
XM_011540016.1:c.-23-18624G>T (ACTA2)	XP_011538318.1:n.-23-18624G>T
NM_001141945.2:c.-23-18624G>T (ACTA2)	NP_001135417.1:n.-23-18624G>T
NM_001320855.1:c.-23-18624G>T (ACTA2)	NP_001307784.1:n.-23-18624G>T