C2orf69 chromosome 2 open reading frame 69

Information
Symbol
C2orf69
Type
protein-coding
Description
chromosome 2 open reading frame 69
Entrez Gene ID
205327
Genome
hg19
Position
chr2:200,776,016-200,792,996
Genome
hg38
Position
chr2:199,911,293-199,928,273
MIM
619219 OMIM
HGNC
HGNC:26799 HGNC
Ensembl
ENSG00000178074 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 2
Likely benign 0 16
Uncertain significance 0 8
Ranking
ClinVar
0
0
2
26
10
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 COXPD53
MIM 619219 OMIM
HGNC HGNC:26799 HGNC
Ensembl ENSG00000178074 Ensembl
AllianceGenome HGNC:26799
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000319974.6 hg38 chr2 199,911,293 199,928,273 16,981
ENST00000319974.6 hg19 chr2 200,776,016 200,792,996 16,981
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