POLR2A RNA polymerase II subunit A

Information
Symbol
POLR2A
Type
protein-coding
Description
RNA polymerase II subunit A
Entrez Gene ID
5430
Genome
hg19
Position
chr17:7,387,685-7,417,496
Genome
hg38
Position
chr17:7,484,366-7,514,179
MIM
180660 OMIM
HGNC
HGNC:9187 HGNC
Ensembl
ENSG00000181222 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 16
Likely pathogenic 0 52
Benign 0 44
Likely benign 0 112
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 332
Ranking
ClinVar
0
0
42
484
18
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 NEDHIB
SYNONYM POLR2
SYNONYM POLRA
SYNONYM RPB1
SYNONYM RPBh1
SYNONYM RPO2
SYNONYM RPOL2
SYNONYM RpIILS
SYNONYM hRPB220
SYNONYM hsRPB1
MIM 180660 OMIM
HGNC HGNC:9187 HGNC
Ensembl ENSG00000181222 Ensembl
AllianceGenome HGNC:9187
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000674977.2 hg38 chr17 7,484,366 7,514,179 29,814
ENST00000674977.2 hg19 chr17 7,387,685 7,417,496 29,812
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