POLG2 DNA polymerase gamma 2, accessory subunit

Information
Symbol
POLG2
Type
protein-coding
Description
DNA polymerase gamma 2, accessory subunit
Entrez Gene ID
11232
Genome
hg19
Position
chr17:62,473,902-62,493,172
Genome
hg38
Position
chr17:64,477,785-64,497,054
MIM
604983 OMIM
HGNC
HGNC:9180 HGNC
Ensembl
ENSG00000256525 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 38
Likely pathogenic 0 14
Benign 10 42
Likely benign 0 242
Conflicting classifications of pathogenicity 0 52
Uncertain significance 0 474
Ranking
ClinVar
0
0
126
668
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 HP55
SYNONYM MTDPS16
SYNONYM MTDPS16A
SYNONYM MTDPS16B
SYNONYM MTPOLB
SYNONYM PEOA4
SYNONYM POLB
SYNONYM POLG-BETA
SYNONYM POLGB
MIM 604983 OMIM
HGNC HGNC:9180 HGNC
Ensembl ENSG00000256525 Ensembl
AllianceGenome HGNC:9180
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000539111.7 hg38 chr17 64,477,785 64,497,054 19,270
ENST00000539111.7 hg19 chr17 62,473,902 62,493,172 19,271
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