PDK2 pyruvate dehydrogenase kinase 2

Information
Symbol
PDK2
Type
protein-coding
Description
pyruvate dehydrogenase kinase 2
Entrez Gene ID
5164
Genome
hg19
Position
chr17:48,172,715-48,189,516
Genome
hg38
Position
chr17:50,095,351-50,112,152
MIM
602525 OMIM
HGNC
HGNC:8810 HGNC
Ensembl
ENSG00000005882 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 2
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
28
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 :
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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 :
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 :
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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 PDHK2
SYNONYM PDKII
MIM 602525 OMIM
HGNC HGNC:8810 HGNC
Ensembl ENSG00000005882 Ensembl
AllianceGenome HGNC:8810
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000007708.7 hg38 chr17 50,094,737 50,111,058 16,322
ENST00000614357.4 hg38 chr17 50,095,695 50,111,368 15,674
ENST00000503176.6 hg38 chr17 50,095,351 50,112,152 16,802
ENST00000007708.7 hg19 chr17 48,172,101 48,188,422 16,322
ENST00000503176.6 hg19 chr17 48,172,715 48,189,516 16,802
ENST00000614357.4 hg19 chr17 48,173,059 48,188,732 15,674
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