Canonical Allele Identifier: CA951863097
Gene: ALDH2 HGNC NCBI

Linked Data

gnomAD v3: 12-111776606-C-A
gnomAD v4: 12-111776606-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111776606C>A , CM000674.2:g.111776606C>A GRCh38
NC_000012.11:g.112214410C>A , CM000674.1:g.112214410C>A GRCh37
NC_000012.10:g.110698793C>A NCBI36
NG_012250.1:g.15065C>A
NG_012250.2:g.14720C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261733.7:c.115-5312C>A MANE Select ENSP00000261733.2:n.115-5312C>A
ENST00000546840.3:c.105-5312C>A
ENST00000261733.6:c.115-5312C>A ENSP00000261733.2:n.115-5312C>A
ENST00000416293.7:c.115-5312C>A ENSP00000403349.3:n.115-5312C>A
ENST00000546840.2:c.100-5312C>A ENSP00000450353.3:n.100-5312C>A
ENST00000548536.1:c.230+886C>A ENSP00000448179.1:n.230+886C>A
NM_000690.3:c.115-5312C>A NP_000681.2:n.115-5312C>A
NM_001204889.1:c.115-5312C>A NP_001191818.1:n.115-5312C>A
NM_000690.4:c.115-5312C>A MANE Select NP_000681.2:n.115-5312C>A
NM_001204889.2:c.115-5312C>A NP_001191818.1:n.115-5312C>A
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