Canonical Allele Identifier: CA5592959

Gene: ACTA2 FAS

Linked Data

• dbSNP Id: rs768491064
• ExAC: 10:90749209 C / CT
• gnomAD v2: 10-90749209-C-CT
• gnomAD v4: 10-88989452-C-CT
• MyVariant Identifiers: chr10:g.90749209_90749210insT (hg19) ; chr10:g.88989452_88989453insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88989457dup , CM000672.2:g.88989457dup	GRCh38
NC_000010.10:g.90749214dup , CM000672.1:g.90749214dup	GRCh37
NC_000010.9:g.90739194dup	NCBI36
NG_009089.2:g.3927dup , LRG_134:g.3927dup
NG_011541.1:g.6938dup , LRG_781:g.6938dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.-24+1486dup (ACTA2)	ENSP00000396730.2:n.-24+1486dup
ENST00000458159.6:c.-24+1569dup (ACTA2)	ENSP00000398239.2:n.-24+1569dup
ENST00000696723.1:n.3553-12dup (FAS)
ENST00000696992.1:n.1037-12dup (FAS)
ENST00000688239.1:n.261-12dup (FAS)
ENST00000690268.1:c.1-12dup (FAS)	ENSP00000509810.1:n.1-12dup
ENST00000415557.1:c.-24+1486dup (ACTA2)	ENSP00000396730.1:n.-24+1486dup
ENST00000458159.5:c.-24+1569dup (ACTA2)	ENSP00000398239.1:n.-24+1569dup
ENST00000458208.5:c.-24+1486dup (ACTA2)	ENSP00000402373.1:n.-24+1486dup
NM_001141945.1:c.-24+1486dup , LRG_781t2:c.-24+1486dup (ACTA2)	NP_001135417.1:n.-24+1486dup
XM_006717819.2:c.1-12dup (FAS)	XP_006717882.1:n.1-12dup
XM_011539764.1:c.82-12dup (FAS)	XP_011538066.1:n.82-12dup
XM_011539765.1:c.82-12dup (FAS)	XP_011538067.1:n.82-12dup
XM_011539766.1:c.1-12dup (FAS)	XP_011538068.1:n.1-12dup
XM_011540016.1:c.-24+1569dup (ACTA2)	XP_011538318.1:n.-24+1569dup
XR_945732.1:n.97-12dup (FAS)
XR_945733.1:n.97-12dup (FAS)
NM_001141945.2:c.-24+1486dup (ACTA2)	NP_001135417.1:n.-24+1486dup
NM_001320855.1:c.-24+1569dup (ACTA2)	NP_001307784.1:n.-24+1569dup
XM_006717819.3:c.1-12dup (FAS)	XP_006717882.1:n.1-12dup
XM_011539764.2:c.82-12dup (FAS)	XP_011538066.1:n.82-12dup
XM_011539765.2:c.82-12dup (FAS)	XP_011538067.1:n.82-12dup
XM_011539766.2:c.1-12dup (FAS)	XP_011538068.1:n.1-12dup
XR_945732.3:n.97-12dup (FAS)
XR_945733.2:n.97-12dup (FAS)