Canonical Allele Identifier: CA594940023

Gene: ACTA2 FAS

Linked Data

• dbSNP Id: rs1379519331
• gnomAD v2: 10-90749180-G-A
• gnomAD v4: 10-88989423-G-A
• MyVariant Identifiers: chr10:g.90749180G>A (hg19) ; chr10:g.88989423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88989423G>A , CM000672.2:g.88989423G>A	GRCh38
NC_000010.10:g.90749180G>A , CM000672.1:g.90749180G>A	GRCh37
NC_000010.9:g.90739160G>A	NCBI36
NG_009089.2:g.3893G>A , LRG_134:g.3893G>A
NG_011541.1:g.6968C>T , LRG_781:g.6968C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.-24+1516C>T (ACTA2)	ENSP00000396730.2:n.-24+1516C>T
ENST00000458159.6:c.-24+1599C>T (ACTA2)	ENSP00000398239.2:n.-24+1599C>T
ENST00000696723.1:n.3553-46G>A (FAS)
ENST00000696992.1:n.1037-46G>A (FAS)
ENST00000688239.1:n.261-46G>A (FAS)
ENST00000690268.1:c.1-46G>A (FAS)	ENSP00000509810.1:n.1-46G>A
ENST00000415557.1:c.-24+1516C>T (ACTA2)	ENSP00000396730.1:n.-24+1516C>T
ENST00000458159.5:c.-24+1599C>T (ACTA2)	ENSP00000398239.1:n.-24+1599C>T
ENST00000458208.5:c.-24+1516C>T (ACTA2)	ENSP00000402373.1:n.-24+1516C>T
NM_001141945.1:c.-24+1516C>T , LRG_781t2:c.-24+1516C>T (ACTA2)	NP_001135417.1:n.-24+1516C>T
XM_006717819.2:c.1-46G>A (FAS)	XP_006717882.1:n.1-46G>A
XM_011539764.1:c.82-46G>A (FAS)	XP_011538066.1:n.82-46G>A
XM_011539765.1:c.82-46G>A (FAS)	XP_011538067.1:n.82-46G>A
XM_011539766.1:c.1-46G>A (FAS)	XP_011538068.1:n.1-46G>A
XM_011540016.1:c.-24+1599C>T (ACTA2)	XP_011538318.1:n.-24+1599C>T
XR_945732.1:n.97-46G>A (FAS)
XR_945733.1:n.97-46G>A (FAS)
NM_001141945.2:c.-24+1516C>T (ACTA2)	NP_001135417.1:n.-24+1516C>T
NM_001320855.1:c.-24+1599C>T (ACTA2)	NP_001307784.1:n.-24+1599C>T
XM_006717819.3:c.1-46G>A (FAS)	XP_006717882.1:n.1-46G>A
XM_011539764.2:c.82-46G>A (FAS)	XP_011538066.1:n.82-46G>A
XM_011539765.2:c.82-46G>A (FAS)	XP_011538067.1:n.82-46G>A
XM_011539766.2:c.1-46G>A (FAS)	XP_011538068.1:n.1-46G>A
XR_945732.3:n.97-46G>A (FAS)
XR_945733.2:n.97-46G>A (FAS)