PPA2 inorganic pyrophosphatase 2

Information
Symbol
PPA2
Type
protein-coding
Description
inorganic pyrophosphatase 2
Entrez Gene ID
27068
Genome
hg19
Position
chr4:106,290,234-106,395,219
Genome
hg38
Position
chr4:105,369,077-105,474,062
MIM
609988 OMIM
HGNC
HGNC:28883 HGNC
Ensembl
ENSG00000138777 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 14
Benign 0 134
Likely benign 0 276
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 258
Ranking
ClinVar
0
0
84
574
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
[No Data.]
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 HSPC124
SYNONYM SCFAI
SYNONYM SCFI
SYNONYM SID6-306
MIM 609988 OMIM
HGNC HGNC:28883 HGNC
Ensembl ENSG00000138777 Ensembl
AllianceGenome HGNC:28883
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000341695.10 hg38 chr4 105,369,077 105,474,062 104,986
ENST00000432483.6 hg38 chr4 105,369,565 105,474,050 104,486
ENST00000354147.7 hg38 chr4 105,369,565 105,474,050 104,486
ENST00000348706.9 hg38 chr4 105,369,243 105,474,064 104,822
ENST00000341695.10 hg19 chr4 106,290,234 106,395,219 104,986
ENST00000348706.9 hg19 chr4 106,290,400 106,395,221 104,822
ENST00000354147.7 hg19 chr4 106,290,722 106,395,207 104,486
ENST00000432483.6 hg19 chr4 106,290,722 106,395,207 104,486
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