Canonical Allele Identifier: CA607358546
Gene: ALDH2 HGNC NCBI

Linked Data

dbSNP Id: rs879591727
gnomAD v2: 12-112214502-A-AT
gnomAD v3: 12-111776698-A-AT
gnomAD v4: 12-111776698-A-AT
MyVariant Identifiers: chr12:g.112214503_112214504insT (hg19) chr12:g.112214502_112214503insT (hg19) chr12:g.111776699_111776700insT (hg38) chr12:g.111776698_111776699insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111776712dup , CM000674.2:g.111776712dup GRCh38
NC_000012.11:g.112214516dup , CM000674.1:g.112214516dup GRCh37
NC_000012.10:g.110698899dup NCBI36
NG_012250.1:g.15171dup
NG_012250.2:g.14826dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261733.7:c.115-5206dup MANE Select ENSP00000261733.2:n.115-5206dup
ENST00000546840.3:c.105-5206dup
ENST00000261733.6:c.115-5206dup ENSP00000261733.2:n.115-5206dup
ENST00000416293.7:c.115-5206dup ENSP00000403349.3:n.115-5206dup
ENST00000546840.2:c.100-5206dup ENSP00000450353.3:n.100-5206dup
ENST00000548536.1:c.230+992dup ENSP00000448179.1:n.230+992dup
NM_000690.3:c.115-5206dup NP_000681.2:n.115-5206dup
NM_001204889.1:c.115-5206dup NP_001191818.1:n.115-5206dup
NM_000690.4:c.115-5206dup MANE Select NP_000681.2:n.115-5206dup
NM_001204889.2:c.115-5206dup NP_001191818.1:n.115-5206dup
Search 100 bp 5'
Search 100 bp 3'