GJC2 gap junction protein gamma 2

Information
Symbol
GJC2
Type
protein-coding
Description
gap junction protein gamma 2
Entrez Gene ID
57165
Genome
hg19
Position
chr1:228,337,631-228,347,527
Genome
hg38
Position
chr1:228,149,930-228,159,826
MIM
608803 OMIM
HGNC
HGNC:17494 HGNC
Ensembl
ENSG00000198835 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 56
Likely pathogenic 0 56
Benign 0 22
Likely benign 0 136
Conflicting classifications of pathogenicity 0 28
not provided 0 2
Uncertain significance 0 346
Ranking
ClinVar
0
0
78
500
24
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 CX46.6
SYNONYM Cx47
SYNONYM GJA12
SYNONYM HLD2
SYNONYM LMPH1C
SYNONYM LMPHM3
SYNONYM PMLDAR
SYNONYM SPG44
MIM 608803 OMIM
HGNC HGNC:17494 HGNC
Ensembl ENSG00000198835 Ensembl
AllianceGenome HGNC:17494
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000366714.3 hg38 chr1 228,149,930 228,159,826 9,897
ENST00000366714.3 hg19 chr1 228,337,631 228,347,527 9,897
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