Canonical Allele Identifier: CA386748153

Gene: ALDH2

Linked Data

• MyVariant Identifiers: chr12:g.112241691C>G (hg19) ; chr12:g.111803887C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111803887C>G , CM000674.2:g.111803887C>G	GRCh38
NC_000012.11:g.112241691C>G , CM000674.1:g.112241691C>G	GRCh37
NC_000012.10:g.110726074C>G	NCBI36
NG_012250.1:g.42346C>G
NG_012250.2:g.42001C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261733.7:c.1435C>G MANE Select	ENSP00000261733.2:p.Gln479Glu
ENST00000261733.6:c.1435C>G	ENSP00000261733.2:p.Gln479Glu
ENST00000416293.7:c.1294C>G	ENSP00000403349.3:p.Gln432Glu
ENST00000548536.1:c.*1311C>G	ENSP00000448179.1:n.*1311C>G
ENST00000549106.1:c.366C>G
NM_000690.3:c.1435C>G	NP_000681.2:p.Gln479Glu
NM_001204889.1:c.1294C>G	NP_001191818.1:p.Gln432Glu
NM_000690.4:c.1435C>G MANE Select	NP_000681.2:p.Gln479Glu
NM_001204889.2:c.1294C>G	NP_001191818.1:p.Gln432Glu