CBY2 chibby family member 2

Information
Symbol
CBY2
Type
protein-coding
Description
chibby family member 2
Entrez Gene ID
220082
Genome
hg19
Position
chr13:46,276,455-46,288,694
Genome
hg38
Position
chr13:45,702,320-45,714,559
MIM
618614 OMIM
HGNC
HGNC:30720 HGNC
Ensembl
ENSG00000174015 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 74
Ranking
ClinVar
0
0
0
80
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
SYNONYM NURIT
SYNONYM SPERT
MIM 618614 OMIM
HGNC HGNC:30720 HGNC
Ensembl ENSG00000174015 Ensembl
AllianceGenome HGNC:30720
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000310521.6 hg38 chr13 45,702,320 45,714,559 12,240
ENST00000610924.1 hg38 chr13 45,702,469 45,714,558 12,090
ENST00000378966.3 hg38 chr13 45,703,128 45,714,559 11,432
ENST00000310521.6 hg19 chr13 46,276,455 46,288,694 12,240
ENST00000610924.1 hg19 chr13 46,276,604 46,288,693 12,090
ENST00000378966.3 hg19 chr13 46,277,263 46,288,694 11,432
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