Canonical Allele Identifier: CA386748113

Gene: ALDH2

Linked Data

• MyVariant Identifiers: chr12:g.112241682T>A (hg19) ; chr12:g.111803878T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111803878T>A , CM000674.2:g.111803878T>A	GRCh38
NC_000012.11:g.112241682T>A , CM000674.1:g.112241682T>A	GRCh37
NC_000012.10:g.110726065T>A	NCBI36
NG_012250.1:g.42337T>A
NG_012250.2:g.41992T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1426T>A MANE Select	ENSP00000261733.2:p.Phe476Ile
ENST00000261733.6:c.1426T>A	ENSP00000261733.2:p.Phe476Ile
ENST00000416293.7:c.1285T>A	ENSP00000403349.3:p.Phe429Ile
ENST00000548536.1:c.*1302T>A	ENSP00000448179.1:n.*1302T>A
ENST00000549106.1:c.357T>A
NM_000690.3:c.1426T>A	NP_000681.2:p.Phe476Ile
NM_001204889.1:c.1285T>A	NP_001191818.1:p.Phe429Ile
NM_000690.4:c.1426T>A MANE Select	NP_000681.2:p.Phe476Ile
NM_001204889.2:c.1285T>A	NP_001191818.1:p.Phe429Ile