View CCM2 gene homepage

General information
Gene symbol CCM2
Gene name cerebral cavernous malformation 2
Chromosome 7
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_016295.1
Transcript reference NM_031443.3
Exon/intron information NM_031443.3
Associated with diseases CCM-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 2
Hidden variants 0
Notes Aliases C7orf22 and MGC4607.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 09, 2010
Date last updated February 13, 2016
Version CCM2:160213

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/CCM2
HGNC 21708
Entrez Gene 83605
PubMed articles CCM2
OMIM - Gene 607929
OMIM - Diseases CCM-2 (cerebral cavernous malformations, type 2 (CCM-2))
HGMD CCM2
GeneCards CCM2
GeneTests CCM2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004616 7 transcript variant 2 NM_031443.3 NP_113631.1 2


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