CRYBB2 crystallin beta B2

Information
Symbol
CRYBB2
Type
protein-coding
Description
crystallin beta B2
Entrez Gene ID
1415
Genome
hg19
Position
chr22:25,608,531-25,627,837
Genome
hg38
Position
chr22:25,212,564-25,231,870
MIM
123620 OMIM
HGNC
HGNC:2398 HGNC
Ensembl
ENSG00000244752 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 20
Benign 4 30
Likely benign 0 46
Conflicting classifications of pathogenicity 0 2
no classification for the single variant 0 2
Uncertain significance 0 80
Ranking
ClinVar
0
0
24
152
8
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 :
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 CCA2
SYNONYM CRYB2
SYNONYM CRYB2A
SYNONYM CTRCT3
SYNONYM D22S665
MIM 123620 OMIM
HGNC HGNC:2398 HGNC
Ensembl ENSG00000244752 Ensembl
AllianceGenome HGNC:2398
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000651629.1 hg38 chr22 25,212,564 25,231,870 19,307
ENST00000398215.3 hg38 chr22 25,219,639 25,231,869 12,231
ENST00000651629.1 hg19 chr22 25,608,531 25,627,837 19,307
ENST00000398215.3 hg19 chr22 25,615,606 25,627,836 12,231
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