PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2

Information
Symbol
PSMD2
Type
protein-coding
Description
proteasome 26S subunit ubiquitin receptor, non-ATPase 2
Entrez Gene ID
5708
Genome
hg19
Position
chr3:184,017,029-184,026,838
Genome
hg38
Position
chr3:184,299,241-184,309,050
MIM
606223 OMIM
HGNC
HGNC:9559 HGNC
Ensembl
ENSG00000175166 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 1 0
Likely benign 0 2
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
64
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 :
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 P97
SYNONYM RPN1
SYNONYM S2
SYNONYM TRAP2
MIM 606223 OMIM
HGNC HGNC:9559 HGNC
Ensembl ENSG00000175166 Ensembl
AllianceGenome HGNC:9559
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000310118.9 hg38 chr3 184,299,241 184,309,050 9,810
ENST00000439383.5 hg38 chr3 184,300,581 184,309,048 8,468
ENST00000435761.5 hg38 chr3 184,300,581 184,309,000 8,420
ENST00000310118.9 hg19 chr3 184,017,029 184,026,838 9,810
ENST00000435761.5 hg19 chr3 184,018,369 184,026,788 8,420
ENST00000439383.5 hg19 chr3 184,018,369 184,026,836 8,468
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