KCNJ2 potassium inwardly rectifying channel subfamily J member 2

Information
Symbol
KCNJ2
Type
protein-coding
Description
potassium inwardly rectifying channel subfamily J member 2
Entrez Gene ID
3759
Genome
hg19
Position
chr17:68,165,673-68,176,185
Genome
hg38
Position
chr17:70,169,532-70,180,044
MIM
600681 OMIM
HGNC
HGNC:6263 HGNC
Ensembl
ENSG00000123700 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 31 82
Likely pathogenic 2 48
Benign 10 88
Likely benign 0 282
Conflicting classifications of pathogenicity 0 114
not provided 0 30
Uncertain significance 0 558
Ranking
ClinVar
0
0
302
678
26
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 :
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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 ATFB9
SYNONYM HHBIRK1
SYNONYM HHIRK1
SYNONYM IRK1
SYNONYM KIR2.1
SYNONYM LQT7
SYNONYM SQT3
MIM 600681 OMIM
HGNC HGNC:6263 HGNC
Ensembl ENSG00000123700 Ensembl
AllianceGenome HGNC:6263
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000243457.4 hg38 chr17 70,169,532 70,180,044 10,513
ENST00000535240.1 hg38 chr17 70,168,673 70,176,323 7,651
ENST00000535240.1 hg19 chr17 68,164,814 68,172,464 7,651
ENST00000243457.4 hg19 chr17 68,165,673 68,176,185 10,513
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