CCM2 CCM2 scaffold protein

Information
Symbol
CCM2
Type
protein-coding
Description
CCM2 scaffold protein
Entrez Gene ID
83605
Genome
hg19
Position
chr7:45,067,233-45,116,068
Genome
hg38
Position
chr7:45,027,634-45,076,469
MIM
607929 OMIM
HGNC
HGNC:21708 HGNC
Ensembl
ENSG00000136280 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 122
Likely pathogenic 0 50
Benign 4 100
Likely benign 0 168
Conflicting classifications of pathogenicity 0 20
not provided 0 14
Uncertain significance 0 162
Ranking
ClinVar
0
0
116
428
14
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 C7orf22
SYNONYM OSM
SYNONYM PP10187
MIM 607929 OMIM
HGNC HGNC:21708 HGNC
Ensembl ENSG00000136280 Ensembl
AllianceGenome HGNC:21708
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000475551.5 hg38 chr7 45,027,026 45,076,451 49,426
ENST00000381112.7 hg38 chr7 45,027,634 45,076,469 48,836
ENST00000474617.1 hg38 chr7 45,027,672 45,076,431 48,760
ENST00000541586.5 hg38 chr7 45,000,188 45,076,469 76,282
ENST00000544363.5 hg38 chr7 45,000,188 45,076,469 76,282
ENST00000258781.11 hg38 chr7 45,000,201 45,076,453 76,253
ENST00000258781.11 hg19 chr7 45,039,800 45,116,052 76,253
ENST00000475551.5 hg19 chr7 45,066,625 45,116,050 49,426
ENST00000381112.7 hg19 chr7 45,067,233 45,116,068 48,836
ENST00000474617.1 hg19 chr7 45,067,271 45,116,030 48,760
ENST00000541586.5 hg19 chr7 45,039,787 45,116,068 76,282
ENST00000544363.5 hg19 chr7 45,039,787 45,116,068 76,282
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