RUVBL2 RuvB like AAA ATPase 2

Information
Symbol
RUVBL2
Type
protein-coding
Description
RuvB like AAA ATPase 2
Entrez Gene ID
10856
Genome
hg19
Position
chr19:49,497,144-49,519,227
Genome
hg38
Position
chr19:48,993,887-49,015,970
MIM
604788 OMIM
HGNC
HGNC:10475 HGNC
Ensembl
ENSG00000183207 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 2
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
46
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 CGI-46
SYNONYM ECP-51
SYNONYM ECP51
SYNONYM INO80J
SYNONYM REPTIN
SYNONYM RVB2
SYNONYM TAP54-beta
SYNONYM TIH2
SYNONYM TIP48
SYNONYM TIP49B
MIM 604788 OMIM
HGNC HGNC:10475 HGNC
Ensembl ENSG00000183207 Ensembl
AllianceGenome HGNC:10475
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000601968.5 hg38 chr19 48,993,562 49,015,892 22,331
ENST00000595090.6 hg38 chr19 48,993,887 49,015,970 22,084
ENST00000627972.1 hg38 chr19 49,004,289 49,015,650 11,362
ENST00000601968.5 hg19 chr19 49,496,819 49,519,149 22,331
ENST00000595090.6 hg19 chr19 49,497,144 49,519,227 22,084
ENST00000627972.1 hg19 chr19 49,507,546 49,518,907 11,362
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