Canonical Allele Identifier: CA386748354

Gene: ALDH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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