ALDH2 aldehyde dehydrogenase 2 family member

Information
Symbol
ALDH2
Type
protein-coding
Description
aldehyde dehydrogenase 2 family member
Entrez Gene ID
217
Genome
hg19
Position
chr12:112,204,737-112,255,336
Genome
hg38
Position
chr12:111,766,933-111,817,532
MIM
100650 OMIM
HGNC
HGNC:404 HGNC
Ensembl
ENSG00000111275 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 18
Likely benign 0 12
drug response 0 2
Uncertain significance 0 30
Ranking
ClinVar
0
2
10
42
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
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Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ALDH-E2
SYNONYM ALDHI
SYNONYM ALDM
MIM 100650 OMIM
HGNC HGNC:404 HGNC
Ensembl ENSG00000111275 Ensembl
AllianceGenome HGNC:404
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000261733.7 hg38 chr12 111,766,933 111,817,532 50,600
ENST00000416293.7 hg38 chr12 111,766,887 111,809,638 42,752
ENST00000416293.7 hg19 chr12 112,204,691 112,247,442 42,752
ENST00000261733.7 hg19 chr12 112,204,737 112,255,336 50,600
KeyValue
strand+
start112,204,690
Gene SymbolALDH2
Entrez GeneId217
Chr Band12q24.2
end112,247,788
chrchr12
Namealdehyde dehydrogenase 2 family (mitochondrial)
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