KIR3DL2 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2

Information
Symbol
KIR3DL2
Type
protein-coding
Description
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2
Entrez Gene ID
3812
Genome
hg19
Position
chr19:55,361,898-55,378,662
Genome
hg38
Position
chr19:54,850,443-54,867,207
MIM
604947 OMIM
HGNC
HGNC:6339 HGNC
Ensembl
ENSG00000240403 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 20
Uncertain significance 0 76
Ranking
ClinVar
0
0
0
96
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 :
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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 3DL2
SYNONYM CD158K
SYNONYM KIR-3DL2
SYNONYM NKAT-4
SYNONYM NKAT4
SYNONYM NKAT4B
SYNONYM p140
MIM 604947 OMIM
HGNC HGNC:6339 HGNC
Ensembl ENSG00000240403 Ensembl
AllianceGenome HGNC:6339
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000326321.7 hg38 chr19 54,850,443 54,867,207 16,765
ENST00000270442.5 hg38 chr19 54,850,476 54,866,960 16,485
ENST00000326321.7 hg19 chr19 55,361,898 55,378,662 16,765
ENST00000270442.5 hg19 chr19 55,361,931 55,378,415 16,485
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