Canonical Allele Identifier: CA951863111
Gene: ALDH2 HGNC NCBI

Linked Data

dbSNP Id: rs2068237624
gnomAD v3: 12-111776709-T-TG
gnomAD v4: 12-111776709-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111776709_111776710insG , CM000674.2:g.111776709_111776710insG GRCh38
NC_000012.11:g.112214513_112214514insG , CM000674.1:g.112214513_112214514insG GRCh37
NC_000012.10:g.110698896_110698897insG NCBI36
NG_012250.1:g.15168_15169insG
NG_012250.2:g.14823_14824insG

Transcript Alleles

HGVS Amino-acid change
ENST00000261733.7:c.115-5209_115-5208insG MANE Select ENSP00000261733.2:n.115-5209_115-5208insG...
ENST00000546840.3:c.105-5209_105-5208insG
ENST00000261733.6:c.115-5209_115-5208insG ENSP00000261733.2:n.115-5209_115-5208insG...
ENST00000416293.7:c.115-5209_115-5208insG ENSP00000403349.3:n.115-5209_115-5208insG...
ENST00000546840.2:c.100-5209_100-5208insG ENSP00000450353.3:n.100-5209_100-5208insG...
ENST00000548536.1:c.230+989_230+990insG ENSP00000448179.1:n.230+989_230+990insG
NM_000690.3:c.115-5209_115-5208insG NP_000681.2:n.115-5209_115-5208insG
NM_001204889.1:c.115-5209_115-5208insG NP_001191818.1:n.115-5209_115-5208insG
NM_000690.4:c.115-5209_115-5208insG MANE Select NP_000681.2:n.115-5209_115-5208insG
NM_001204889.2:c.115-5209_115-5208insG NP_001191818.1:n.115-5209_115-5208insG
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