PLEK2 pleckstrin 2

Information
Symbol
PLEK2
Type
protein-coding
Description
pleckstrin 2
Entrez Gene ID
26499
Genome
hg19
Position
chr14:67,853,701-67,878,882
Genome
hg38
Position
chr14:67,386,984-67,412,165
MIM
608007 OMIM
HGNC
HGNC:19238 HGNC
Ensembl
ENSG00000100558 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
58
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
MIM 608007 OMIM
HGNC HGNC:19238 HGNC
Ensembl ENSG00000100558 Ensembl
AllianceGenome HGNC:19238
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000216446.9 hg38 chr14 67,386,984 67,412,165 25,182
ENST00000216446.9 hg19 chr14 67,853,701 67,878,882 25,182
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