Canonical Allele Identifier: CA607358553

Gene: ALDH2

Linked Data

• gnomAD v2: 12-112214516-TGAGAC-T
• gnomAD v3: 12-111776712-TGAGAC-T
• gnomAD v4: 12-111776712-TGAGAC-T
• MyVariant Identifiers: chr12:g.112214517_112214523delinsTC (hg19) ; chr12:g.111776713_111776719delinsTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111776713_111776717del , CM000674.2:g.111776713_111776717del	GRCh38
NC_000012.11:g.112214517_112214521del , CM000674.1:g.112214517_112214521del	GRCh37
NC_000012.10:g.110698900_110698904del	NCBI36
NG_012250.1:g.15172_15176del
NG_012250.2:g.14827_14831del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261733.7:c.115-5205_115-5201del MANE Select	ENSP00000261733.2:n.115-5205_115-5201del
ENST00000546840.3:c.105-5205_105-5201del
ENST00000261733.6:c.115-5205_115-5201del	ENSP00000261733.2:n.115-5205_115-5201del
ENST00000416293.7:c.115-5205_115-5201del	ENSP00000403349.3:n.115-5205_115-5201del
ENST00000546840.2:c.100-5205_100-5201del	ENSP00000450353.3:n.100-5205_100-5201del
ENST00000548536.1:c.230+993_230+997del	ENSP00000448179.1:n.230+993_230+997del
NM_000690.3:c.115-5205_115-5201del	NP_000681.2:n.115-5205_115-5201del
NM_001204889.1:c.115-5205_115-5201del	NP_001191818.1:n.115-5205_115-5201del
NM_000690.4:c.115-5205_115-5201del MANE Select	NP_000681.2:n.115-5205_115-5201del
NM_001204889.2:c.115-5205_115-5201del	NP_001191818.1:n.115-5205_115-5201del