Canonical Allele Identifier: CA2575407306
Gene: ALDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111803976del , CM000674.2:g.111803976del GRCh38
NC_000012.11:g.112241780del , CM000674.1:g.112241780del GRCh37
NC_000012.10:g.110726163del NCBI36
NG_012250.1:g.42435del
NG_012250.2:g.42090del

Transcript Alleles

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