ALDH1L2 aldehyde dehydrogenase 1 family member L2

Information
Symbol
ALDH1L2
Type
protein-coding
Description
aldehyde dehydrogenase 1 family member L2
Entrez Gene ID
160428
Genome
hg19
Position
chr12:105,413,568-105,478,236
Genome
hg38
Position
chr12:105,019,790-105,084,458
MIM
613584 OMIM
HGNC
HGNC:26777 HGNC
Ensembl
ENSG00000136010 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 74
Ranking
ClinVar
0
0
0
80
0
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
Category :
Search word :
Filtering :
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 :
Filtering :
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 :
Search word :
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 mtFDH
MIM 613584 OMIM
HGNC HGNC:26777 HGNC
Ensembl ENSG00000136010 Ensembl
AllianceGenome HGNC:26777
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000258494.14 hg38 chr12 105,019,790 105,084,458 64,669
ENST00000652515.1 hg38 chr12 105,019,806 105,107,643 87,838
ENST00000258494.14 hg19 chr12 105,413,568 105,478,236 64,669
ENST00000652515.1 hg19 chr12 105,413,584 105,501,421 87,838
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