Canonical Allele Identifier: CA2499805475
Gene: ALDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111806524del , CM000674.2:g.111806524del GRCh38
NC_000012.11:g.112244328del , CM000674.1:g.112244328del GRCh37
NC_000012.10:g.110728711del NCBI36
NG_012250.1:g.44983del
NG_012250.2:g.44638del

Transcript Alleles

HGVS Amino-acid change
ENST00000261733.7:c.1521+2551del MANE Select ENSP00000261733.2:n.1521+2551del
ENST00000261733.6:c.1521+2551del ENSP00000261733.2:n.1521+2551del
ENST00000416293.7:c.1380+2551del ENSP00000403349.3:n.1380+2551del
ENST00000548536.1:c.*1397+2551del ENSP00000448179.1:n.*1397+2551del
ENST00000549106.1:c.452+2551del
NM_000690.3:c.1521+2551del NP_000681.2:n.1521+2551del
NM_001204889.1:c.1380+2551del NP_001191818.1:n.1380+2551del
NM_000690.4:c.1521+2551del MANE Select NP_000681.2:n.1521+2551del
NM_001204889.2:c.1380+2551del NP_001191818.1:n.1380+2551del