Canonical Allele Identifier: CA2063463839
Gene: ALDH2 HGNC NCBI

Linked Data

dbSNP Id: rs894681292

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111806533G>A , CM000674.2:g.111806533G>A GRCh38
NC_000012.11:g.112244337G>A , CM000674.1:g.112244337G>A GRCh37
NC_000012.10:g.110728720G>A NCBI36
NG_012250.1:g.44992G>A
NG_012250.2:g.44647G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261733.7:c.1521+2560G>A MANE Select ENSP00000261733.2:n.1521+2560G>A
ENST00000261733.6:c.1521+2560G>A ENSP00000261733.2:n.1521+2560G>A
ENST00000416293.7:c.1380+2560G>A ENSP00000403349.3:n.1380+2560G>A
ENST00000548536.1:c.*1397+2560G>A ENSP00000448179.1:n.*1397+2560G>A
ENST00000549106.1:c.452+2560G>A
NM_000690.3:c.1521+2560G>A NP_000681.2:n.1521+2560G>A
NM_001204889.1:c.1380+2560G>A NP_001191818.1:n.1380+2560G>A
NM_000690.4:c.1521+2560G>A MANE Select NP_000681.2:n.1521+2560G>A
NM_001204889.2:c.1380+2560G>A NP_001191818.1:n.1380+2560G>A