P2RY2 purinergic receptor P2Y2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 58 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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64 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | HP2U |
SYNONYM | P2RU1 |
SYNONYM | P2U |
SYNONYM | P2U1 |
SYNONYM | P2UR |
SYNONYM | P2Y2 |
SYNONYM | P2Y2R |
MIM | 600041 OMIM |
HGNC | HGNC:8541 HGNC |
Ensembl | ENSG00000175591 Ensembl |
AllianceGenome | HGNC:8541 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000393597.7 | hg38 | chr11 | 73,218,281 | 73,242,427 | 24,147 |
ENST00000393596.2 | hg38 | chr11 | 73,218,457 | 73,235,934 | 17,478 |
ENST00000311131.6 | hg38 | chr11 | 73,218,299 | 73,236,352 | 18,054 |
ENST00000393597.7 | hg19 | chr11 | 72,929,326 | 72,953,472 | 24,147 |
ENST00000311131.6 | hg19 | chr11 | 72,929,344 | 72,947,397 | 18,054 |
ENST00000393596.2 | hg19 | chr11 | 72,929,502 | 72,946,979 | 17,478 |
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