CALCOCO2 calcium binding and coiled-coil domain 2

Information
Symbol
CALCOCO2
Type
protein-coding
Description
calcium binding and coiled-coil domain 2
Entrez Gene ID
10241
Genome
hg19
Position
chr17:46,908,396-46,940,815
Genome
hg38
Position
chr17:48,831,034-48,863,453
MIM
604587 OMIM
HGNC
HGNC:29912 HGNC
Ensembl
ENSG00000136436 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
40
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
[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 NDP52
MIM 604587 OMIM
HGNC HGNC:29912 HGNC
Ensembl ENSG00000136436 Ensembl
AllianceGenome HGNC:29912
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000508679.5 hg38 chr17 48,831,035 48,863,196 32,162
ENST00000509507.5 hg38 chr17 48,831,026 48,863,050 32,025
ENST00000258947.8 hg38 chr17 48,831,035 48,865,245 34,211
ENST00000416445.6 hg38 chr17 48,831,035 48,863,174 32,140
ENST00000448105.6 hg38 chr17 48,831,034 48,863,453 32,420
ENST00000509507.5 hg19 chr17 46,908,388 46,940,412 32,025
ENST00000508679.5 hg19 chr17 46,908,397 46,940,558 32,162
ENST00000258947.8 hg19 chr17 46,908,397 46,942,607 34,211
ENST00000416445.6 hg19 chr17 46,908,397 46,940,536 32,140
ENST00000448105.6 hg19 chr17 46,908,396 46,940,815 32,420
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