C2CD2 C2 calcium dependent domain containing 2

Information
Symbol
C2CD2
Type
protein-coding
Description
C2 calcium dependent domain containing 2
Entrez Gene ID
25966
Genome
hg19
Position
chr21:43,305,221-43,374,127
Genome
hg38
Position
chr21:41,885,112-41,954,018
MIM
617581 OMIM
HGNC
HGNC:1266 HGNC
Ensembl
ENSG00000157617 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 8
Uncertain significance 0 58
Ranking
ClinVar
0
0
0
76
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 :
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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 C21orf25
SYNONYM C21orf258
SYNONYM TMEM24L
MIM 617581 OMIM
HGNC HGNC:1266 HGNC
Ensembl ENSG00000157617 Ensembl
AllianceGenome HGNC:1266
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000380486.4 hg38 chr21 41,885,112 41,954,018 68,907
ENST00000329623.11 hg38 chr21 41,885,112 41,926,690 41,579
ENST00000329623.11 hg19 chr21 43,305,221 43,346,799 41,579
ENST00000380486.4 hg19 chr21 43,305,221 43,374,127 68,907
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