UBR2 ubiquitin protein ligase E3 component n-recognin 2

Information
Symbol
UBR2
Type
protein-coding
Description
ubiquitin protein ligase E3 component n-recognin 2
Entrez Gene ID
23304
Genome
hg19
Position
chr6:42,531,767-42,661,243
Genome
hg38
Position
chr6:42,564,029-42,693,505
MIM
609134 OMIM
HGNC
HGNC:21289 HGNC
Ensembl
ENSG00000024048 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 24
Uncertain significance 0 146
Ranking
ClinVar
0
0
0
174
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 :
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 C6orf133
SYNONYM bA49A4.1
SYNONYM dJ242G1.1
SYNONYM dJ392M17.3
MIM 609134 OMIM
HGNC HGNC:21289 HGNC
Ensembl ENSG00000024048 Ensembl
AllianceGenome HGNC:21289
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000372899.6 hg38 chr6 42,564,029 42,693,505 129,477
ENST00000372901.2 hg38 chr6 42,564,029 42,693,505 129,477
ENST00000372903.6 hg38 chr6 42,564,062 42,620,351 56,290
ENST00000372899.6 hg19 chr6 42,531,767 42,661,243 129,477
ENST00000372901.2 hg19 chr6 42,531,767 42,661,243 129,477
ENST00000372903.6 hg19 chr6 42,531,800 42,588,089 56,290
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