COG2 component of oligomeric golgi complex 2

Information
Symbol
COG2
Type
protein-coding
Description
component of oligomeric golgi complex 2
Entrez Gene ID
22796
Genome
hg19
Position
chr1:230,778,227-230,829,728
Genome
hg38
Position
chr1:230,642,481-230,693,982
MIM
606974 OMIM
HGNC
HGNC:6546 HGNC
Ensembl
ENSG00000135775 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 8
Likely pathogenic 1 4
Benign 0 104
Likely benign 0 150
Conflicting classifications of pathogenicity 0 2
other 1 0
Uncertain significance 0 130
Ranking
ClinVar
0
0
44
342
4
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 CDG2Q
SYNONYM LDLC
MIM 606974 OMIM
HGNC HGNC:6546 HGNC
Ensembl ENSG00000135775 Ensembl
AllianceGenome HGNC:6546
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000366669.9 hg38 chr1 230,642,481 230,693,982 51,502
ENST00000366668.7 hg38 chr1 230,642,567 230,693,982 51,416
ENST00000534989.1 hg38 chr1 230,642,811 230,693,981 51,171
ENST00000366669.9 hg19 chr1 230,778,227 230,829,728 51,502
ENST00000366668.7 hg19 chr1 230,778,313 230,829,728 51,416
ENST00000534989.1 hg19 chr1 230,778,557 230,829,727 51,171
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