Canonical Allele Identifier: CA683650314

Gene: ALDH2

Linked Data

• dbSNP Id: rs1430829303
• gnomAD v3: 12-111807504-C-A
• gnomAD v4: 12-111807504-C-A
• MyVariant Identifiers: chr12:g.112245308C>A (hg19) ; chr12:g.111807504C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111807504C>A , CM000674.2:g.111807504C>A	GRCh38
NC_000012.11:g.112245308C>A , CM000674.1:g.112245308C>A	GRCh37
NC_000012.10:g.110729691C>A	NCBI36
NG_012250.1:g.45963C>A
NG_012250.2:g.45618C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1522-2039C>A MANE Select	ENSP00000261733.2:n.1522-2039C>A
ENST00000261733.6:c.1522-2039C>A	ENSP00000261733.2:n.1522-2039C>A
ENST00000416293.7:c.1381-2039C>A	ENSP00000403349.3:n.1381-2039C>A
ENST00000548536.1:c.*1398-2039C>A	ENSP00000448179.1:n.*1398-2039C>A
ENST00000549106.1:c.453-2039C>A
NM_000690.3:c.1522-2039C>A	NP_000681.2:n.1522-2039C>A
NM_001204889.1:c.1381-2039C>A	NP_001191818.1:n.1381-2039C>A
NM_000690.4:c.1522-2039C>A MANE Select	NP_000681.2:n.1522-2039C>A
NM_001204889.2:c.1381-2039C>A	NP_001191818.1:n.1381-2039C>A