Canonical Allele Identifier: CA243653435

Gene: ALDH2

Linked Data

• dbSNP Id: rs534127667
• gnomAD v2: 12-112228985-G-A
• gnomAD v3: 12-111791181-G-A
• gnomAD v4: 12-111791181-G-A
• MyVariant Identifiers: chr12:g.112228985G>A (hg19) ; chr12:g.111791181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111791181G>A , CM000674.2:g.111791181G>A	GRCh38
NC_000012.11:g.112228985G>A , CM000674.1:g.112228985G>A	GRCh37
NC_000012.10:g.110713368G>A	NCBI36
NG_012250.1:g.29640G>A
NG_012250.2:g.29295G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.682-125G>A MANE Select	ENSP00000261733.2:n.682-125G>A
ENST00000546840.3:c.672-125G>A
ENST00000261733.6:c.682-125G>A	ENSP00000261733.2:n.682-125G>A
ENST00000416293.7:c.541-125G>A	ENSP00000403349.3:n.541-125G>A
ENST00000546840.2:c.667-125G>A	ENSP00000450353.3:n.667-125G>A
ENST00000548536.1:c.*558-125G>A	ENSP00000448179.1:n.*558-125G>A
NM_000690.3:c.682-125G>A	NP_000681.2:n.682-125G>A
NM_001204889.1:c.541-125G>A	NP_001191818.1:n.541-125G>A
NM_000690.4:c.682-125G>A MANE Select	NP_000681.2:n.682-125G>A
NM_001204889.2:c.541-125G>A	NP_001191818.1:n.541-125G>A