Canonical Allele Identifier: CA951867722

Gene: ALDH2

Linked Data

• dbSNP Id: rs35239056
• gnomAD v3: 12-111807875-A-ATTT
• gnomAD v4: 12-111807875-A-ATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111807890_111807892dup , CM000674.2:g.111807890_111807892dup	GRCh38
NC_000012.11:g.112245694_112245696dup , CM000674.1:g.112245694_112245696dup	GRCh37
NC_000012.10:g.110730077_110730079dup	NCBI36
NG_012250.1:g.46349_46351dup
NG_012250.2:g.46004_46006dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1522-1653_1522-1651dup MANE Select	ENSP00000261733.2:n.1522-1653_1522-1651dup
ENST00000261733.6:c.1522-1653_1522-1651dup	ENSP00000261733.2:n.1522-1653_1522-1651dup
ENST00000416293.7:c.1381-1653_1381-1651dup	ENSP00000403349.3:n.1381-1653_1381-1651dup
ENST00000548536.1:c.*1398-1653_*1398-1651dup	ENSP00000448179.1:n.*1398-1653_*1398-1651dup
ENST00000549106.1:c.453-1653_453-1651dup
NM_000690.3:c.1522-1653_1522-1651dup	NP_000681.2:n.1522-1653_1522-1651dup
NM_001204889.1:c.1381-1653_1381-1651dup	NP_001191818.1:n.1381-1653_1381-1651dup
NM_000690.4:c.1522-1653_1522-1651dup MANE Select	NP_000681.2:n.1522-1653_1522-1651dup
NM_001204889.2:c.1381-1653_1381-1651dup	NP_001191818.1:n.1381-1653_1381-1651dup