CMPK2 cytidine/uridine monophosphate kinase 2

Information
Symbol
CMPK2
Type
protein-coding
Description
cytidine/uridine monophosphate kinase 2
Entrez Gene ID
129607
Genome
hg19
Position
chr2:6,988,447-7,006,038
Genome
hg38
Position
chr2:6,848,316-6,865,907
MIM
611787 OMIM
HGNC
HGNC:27015 HGNC
Ensembl
ENSG00000134326 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 0
Likely benign 0 8
Uncertain significance 0 64
Ranking
ClinVar
0
0
0
72
0
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 NDK
SYNONYM TMPK2
SYNONYM TYKi
SYNONYM UMP-CMPK2
MIM 611787 OMIM
HGNC HGNC:27015 HGNC
Ensembl ENSG00000134326 Ensembl
AllianceGenome HGNC:27015
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000404168.1 hg38 chr2 6,850,650 6,865,712 15,063
ENST00000256722.10 hg38 chr2 6,848,316 6,865,907 17,592
ENST00000458098.5 hg38 chr2 6,840,570 6,865,819 25,250
ENST00000458098.5 hg19 chr2 6,980,701 7,005,950 25,250
ENST00000256722.10 hg19 chr2 6,988,447 7,006,038 17,592
ENST00000404168.1 hg19 chr2 6,990,781 7,005,843 15,063
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