PKD2 polycystin 2, transient receptor potential cation channel

Information
Symbol
PKD2
Type
protein-coding
Description
polycystin 2, transient receptor potential cation channel
Entrez Gene ID
5311
Genome
hg19
Position
chr4:88,928,787-88,998,929
Genome
hg38
Position
chr4:88,007,635-88,077,777
MIM
173910 OMIM
HGNC
HGNC:9009 HGNC
Ensembl
ENSG00000118762 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 368
Likely pathogenic 16 130
Benign 30 124
Likely benign 2 436
Conflicting classifications of pathogenicity 0 82
not provided 0 2
Uncertain significance 2 866
Ranking
ClinVar
0
0
390
1,310
138
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 APKD2
SYNONYM PC2
SYNONYM PKD4
SYNONYM Pc-2
SYNONYM TRPP2
MIM 173910 OMIM
HGNC HGNC:9009 HGNC
Ensembl ENSG00000118762 Ensembl
AllianceGenome HGNC:9009
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000502363.1 hg38 chr4 88,056,066 88,075,705 19,640
ENST00000237596.7 hg38 chr4 88,007,635 88,077,777 70,143
ENST00000508588.5 hg38 chr4 88,043,261 88,075,858 32,598
ENST00000237596.7 hg19 chr4 88,928,787 88,998,929 70,143
ENST00000508588.5 hg19 chr4 88,964,413 88,997,010 32,598
ENST00000502363.1 hg19 chr4 88,977,218 88,996,857 19,640
Genome browser