PGAM2 phosphoglycerate mutase 2

Information
Symbol
PGAM2
Type
protein-coding
Description
phosphoglycerate mutase 2
Entrez Gene ID
5224
Genome
hg19
Position
chr7:44,102,326-44,105,166
Genome
hg38
Position
chr7:44,062,727-44,065,567
MIM
612931 OMIM
HGNC
HGNC:8889 HGNC
Ensembl
ENSG00000164708 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 8
Benign 0 14
Likely benign 0 90
Conflicting classifications of pathogenicity 0 26
Uncertain significance 0 166
Ranking
ClinVar
0
0
72
208
2
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 GSD10
SYNONYM PGAM-M
SYNONYM PGAMM
MIM 612931 OMIM
HGNC HGNC:8889 HGNC
Ensembl ENSG00000164708 Ensembl
AllianceGenome HGNC:8889
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000297283.4 hg38 chr7 44,062,727 44,065,567 2,841
ENST00000297283.4 hg19 chr7 44,102,326 44,105,166 2,841
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