Canonical Allele Identifier: CA386748353

Gene: ALDH2

Linked Data

• MyVariant Identifiers: chr12:g.112241779T>A (hg19) ; chr12:g.111803975T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111803975T>A , CM000674.2:g.111803975T>A	GRCh38
NC_000012.11:g.112241779T>A , CM000674.1:g.112241779T>A	GRCh37
NC_000012.10:g.110726162T>A	NCBI36
NG_012250.1:g.42434T>A
NG_012250.2:g.42089T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261733.7:c.1521+2T>A MANE Select	ENSP00000261733.2:n.1521+2T>A
ENST00000261733.6:c.1521+2T>A	ENSP00000261733.2:n.1521+2T>A
ENST00000416293.7:c.1380+2T>A	ENSP00000403349.3:n.1380+2T>A
ENST00000548536.1:c.*1397+2T>A	ENSP00000448179.1:n.*1397+2T>A
ENST00000549106.1:c.452+2T>A
NM_000690.3:c.1521+2T>A	NP_000681.2:n.1521+2T>A
NM_001204889.1:c.1380+2T>A	NP_001191818.1:n.1380+2T>A
NM_000690.4:c.1521+2T>A MANE Select	NP_000681.2:n.1521+2T>A
NM_001204889.2:c.1380+2T>A	NP_001191818.1:n.1380+2T>A