Canonical Allele Identifier: CA607358523

Gene: ALDH2

Linked Data

• gnomAD v2: 12-112214408-T-A
• gnomAD v3: 12-111776604-T-A
• gnomAD v4: 12-111776604-T-A
• MyVariant Identifiers: chr12:g.112214408T>A (hg19) ; chr12:g.111776604T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111776604T>A , CM000674.2:g.111776604T>A	GRCh38
NC_000012.11:g.112214408T>A , CM000674.1:g.112214408T>A	GRCh37
NC_000012.10:g.110698791T>A	NCBI36
NG_012250.1:g.15063T>A
NG_012250.2:g.14718T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261733.7:c.115-5314T>A MANE Select	ENSP00000261733.2:n.115-5314T>A
ENST00000546840.3:c.105-5314T>A
ENST00000261733.6:c.115-5314T>A	ENSP00000261733.2:n.115-5314T>A
ENST00000416293.7:c.115-5314T>A	ENSP00000403349.3:n.115-5314T>A
ENST00000546840.2:c.100-5314T>A	ENSP00000450353.3:n.100-5314T>A
ENST00000548536.1:c.230+884T>A	ENSP00000448179.1:n.230+884T>A
NM_000690.3:c.115-5314T>A	NP_000681.2:n.115-5314T>A
NM_001204889.1:c.115-5314T>A	NP_001191818.1:n.115-5314T>A
NM_000690.4:c.115-5314T>A MANE Select	NP_000681.2:n.115-5314T>A
NM_001204889.2:c.115-5314T>A	NP_001191818.1:n.115-5314T>A