P2RX2 purinergic receptor P2X 2

Information
Symbol
P2RX2
Type
protein-coding
Description
purinergic receptor P2X 2
Entrez Gene ID
22953
Genome
hg19
Position
chr12:133,195,403-133,198,558
Genome
hg38
Position
chr12:132,618,817-132,621,972
MIM
600844 OMIM
HGNC
HGNC:15459 HGNC
Ensembl
ENSG00000187848 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 6
Benign 0 78
Likely benign 0 158
Conflicting classifications of pathogenicity 0 24
not provided 0 2
Uncertain significance 0 194
Ranking
ClinVar
0
0
84
324
6
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 DFNA41
SYNONYM P2X2
MIM 600844 OMIM
HGNC HGNC:15459 HGNC
Ensembl ENSG00000187848 Ensembl
AllianceGenome HGNC:15459
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000449132.6 hg38 chr12 132,618,817 132,621,972 3,156
ENST00000348800.9 hg38 chr12 132,618,817 132,621,979 3,163
ENST00000350048.9 hg38 chr12 132,618,817 132,621,972 3,156
ENST00000351222.8 hg38 chr12 132,618,817 132,621,972 3,156
ENST00000352418.8 hg38 chr12 132,618,817 132,621,972 3,156
ENST00000643471.2 hg38 chr12 132,618,776 132,622,388 3,613
ENST00000343948.8 hg38 chr12 132,618,817 132,621,972 3,156
ENST00000542301.2 hg38 chr12 132,618,817 132,622,340 3,524
ENST00000643471.2 hg19 chr12 133,195,362 133,198,974 3,613
ENST00000343948.8 hg19 chr12 133,195,403 133,198,558 3,156
ENST00000350048.9 hg19 chr12 133,195,403 133,198,558 3,156
ENST00000351222.8 hg19 chr12 133,195,403 133,198,558 3,156
ENST00000352418.8 hg19 chr12 133,195,403 133,198,558 3,156
ENST00000449132.6 hg19 chr12 133,195,403 133,198,558 3,156
ENST00000348800.9 hg19 chr12 133,195,403 133,198,565 3,163
ENST00000542301.2 hg19 chr12 133,195,403 133,198,926 3,524
Genome browser