Canonical Allele Identifier: CA5592974

Gene: ACTA2 FAS

Linked Data

• dbSNP Id: rs766297630
• ExAC: 10:90749272 A / G
• gnomAD v2: 10-90749272-A-G
• gnomAD v3: 10-88989515-A-G
• gnomAD v4: 10-88989515-A-G
• MyVariant Identifiers: chr10:g.90749272A>G (hg19) ; chr10:g.88989515A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88989515A>G , CM000672.2:g.88989515A>G	GRCh38
NC_000010.10:g.90749272A>G , CM000672.1:g.90749272A>G	GRCh37
NC_000010.9:g.90739252A>G	NCBI36
NG_009089.2:g.3985A>G , LRG_134:g.3985A>G
NG_011541.1:g.6876T>C , LRG_781:g.6876T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.-24+1424T>C (ACTA2)	ENSP00000396730.2:n.-24+1424T>C
ENST00000458159.6:c.-24+1507T>C (ACTA2)	ENSP00000398239.2:n.-24+1507T>C
ENST00000696723.1:n.3599A>G (FAS)
ENST00000696992.1:n.1083A>G (FAS)
ENST00000688239.1:n.307A>G (FAS)
ENST00000690268.1:c.47A>G (FAS)	ENSP00000509810.1:p.His16Arg
ENST00000415557.1:c.-24+1424T>C (ACTA2)	ENSP00000396730.1:n.-24+1424T>C
ENST00000458159.5:c.-24+1507T>C (ACTA2)	ENSP00000398239.1:n.-24+1507T>C
ENST00000458208.5:c.-24+1424T>C (ACTA2)	ENSP00000402373.1:n.-24+1424T>C
NM_001141945.1:c.-24+1424T>C , LRG_781t2:c.-24+1424T>C (ACTA2)	NP_001135417.1:n.-24+1424T>C
XM_006717819.2:c.47A>G (FAS)	XP_006717882.1:p.His16Arg
XM_011539764.1:c.128A>G (FAS)	XP_011538066.1:p.His43Arg
XM_011539765.1:c.128A>G (FAS)	XP_011538067.1:p.His43Arg
XM_011539766.1:c.47A>G (FAS)	XP_011538068.1:p.His16Arg
XM_011540016.1:c.-24+1507T>C (ACTA2)	XP_011538318.1:n.-24+1507T>C
XR_945732.1:n.143A>G (FAS)
XR_945733.1:n.143A>G (FAS)
NM_001141945.2:c.-24+1424T>C (ACTA2)	NP_001135417.1:n.-24+1424T>C
NM_001320855.1:c.-24+1507T>C (ACTA2)	NP_001307784.1:n.-24+1507T>C
XM_006717819.3:c.47A>G (FAS)	XP_006717882.1:p.His16Arg
XM_011539764.2:c.128A>G (FAS)	XP_011538066.1:p.His43Arg
XM_011539765.2:c.128A>G (FAS)	XP_011538067.1:p.His43Arg
XM_011539766.2:c.47A>G (FAS)	XP_011538068.1:p.His16Arg
XR_945732.3:n.143A>G (FAS)
XR_945733.2:n.143A>G (FAS)