AQP2 aquaporin 2

Information
Symbol
AQP2
Type
protein-coding
Description
aquaporin 2
Entrez Gene ID
359
Genome
hg19
Position
chr12:50,344,520-50,352,661
Genome
hg38
Position
chr12:49,950,737-49,958,878
MIM
107777 OMIM
HGNC
HGNC:634 HGNC
Ensembl
ENSG00000167580 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 78
Likely pathogenic 0 40
Benign 0 88
Likely benign 0 360
Conflicting classifications of pathogenicity 0 28
not provided 0 2
Uncertain significance 0 178
Ranking
ClinVar
0
0
68
620
32
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 AQP-CD
SYNONYM NDI2
SYNONYM WCH-CD
MIM 107777 OMIM
HGNC HGNC:634 HGNC
Ensembl ENSG00000167580 Ensembl
AllianceGenome HGNC:634
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000199280.4 hg38 chr12 49,950,737 49,958,878 8,142
ENST00000199280.4 hg19 chr12 50,344,520 50,352,661 8,142
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