GJD2 gap junction protein delta 2

Information
Symbol
GJD2
Type
protein-coding
Description
gap junction protein delta 2
Entrez Gene ID
57369
Genome
hg19
Position
chr15:35,043,233-35,047,199
Genome
hg38
Position
chr15:34,751,032-34,754,998
MIM
607058 OMIM
HGNC
HGNC:19154 HGNC
Ensembl
ENSG00000159248 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
28
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 CX36
SYNONYM GJA9
MIM 607058 OMIM
HGNC HGNC:19154 HGNC
Ensembl ENSG00000159248 Ensembl
AllianceGenome HGNC:19154
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000290374.5 hg38 chr15 34,751,032 34,754,998 3,967
ENST00000290374.5 hg19 chr15 35,043,233 35,047,199 3,967
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