COL6A2 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol COL6A2
Gene name collagen, type VI, alpha 2
Chromosome 21
Chromosomal band q22.3
Imprinted Unknown
Genomic reference NG_008675.1
Transcript reference NM_001849.3
Exon/intron information NM_001849.3 exon/intron table
Associated with diseases BTHLM, BTHLM-1, UCMD-1, myosclerosis, autosomal recessive
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 431
Unique public DNA variants reported 202
Individuals with public variants 242
Hidden variants 84
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:The database was initiated with the help of Anne Lampe, based on the review article Lampe AK, Bushby KMD (2005). Collagen VI related muscle disorders. J. Med. Genet. 42: 673-685.
Date created February 28, 2005
Date last updated December 06, 2017
Version COL6A2:171206

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001849.3.
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 https://www.LOVD.nl/COL6A2
HGNC 2212
Entrez Gene 1292
PubMed articles COL6A2
OMIM - Gene 120240
OMIM - Diseases BTHLM-1 (myopathy, Bethlem, type 1 (BTHLM-1))
UCMD-1 (dystrophy, muscular, congenital, Ullrich, type 1 (UCMD-1))
myosclerosis, autosomal recessive
HGMD COL6A2
GeneCards COL6A2
GeneTests COL6A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005472 21 transcript variant 2C2 NM_001849.3 NP_001840.3 431


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2005-2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.