GJB2 gap junction protein beta 2

Information
Symbol
GJB2
Type
protein-coding
Description
gap junction protein beta 2
Entrez Gene ID
2706
Genome
hg19
Position
chr13:20,761,602-20,763,919
Genome
hg38
Position
chr13:20,187,463-20,189,780
MIM
121011 OMIM
HGNC
HGNC:4284 HGNC
Ensembl
ENSG00000165474 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 89 276
Likely pathogenic 0 228
Benign 0 48
Likely benign 2 262
Conflicting classifications of pathogenicity 0 108
not provided 0 4
Uncertain significance 0 268
Ranking
ClinVar
0
56
310
540
54
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 BAPS
SYNONYM CX26
SYNONYM DFNA3
SYNONYM DFNA3A
SYNONYM DFNB1
SYNONYM DFNB1A
SYNONYM HID
SYNONYM KID
SYNONYM NSRD1
SYNONYM PPK
MIM 121011 OMIM
HGNC HGNC:4284 HGNC
Ensembl ENSG00000165474 Ensembl
AllianceGenome HGNC:4284
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000382848.5 hg38 chr13 20,187,470 20,192,938 5,469
ENST00000382844.2 hg38 chr13 20,187,463 20,189,780 2,318
ENST00000382844.2 hg19 chr13 20,761,602 20,763,919 2,318
ENST00000382848.5 hg19 chr13 20,761,609 20,767,077 5,469
Genome browser