The COL5A2 gene homepage

Ehlers Danlos Syndrome Variant Database


General information
Gene symbol COL5A2
Gene name collagen type V alpha 2 chain
Chromosome 2
Chromosomal band q32.2
Imprinted Unknown
Genomic reference NG_011799.3
Transcript reference NM_000393.3
Exon/intron information NM_000393.3 exon/intron table
Associated with diseases EDS, EDSCL2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Raymond Dalgleish
Total number of public variants reported 274
Unique public DNA variants reported 207
Individuals with public variants 535
Hidden variants 8
Download all this gene's data Download all data
Date created October 06, 2009
Date last updated March 27, 2024
Version COL5A2:240327

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_000393.3.
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/COL5A2
HGNC 2210
Entrez Gene 1290
PubMed articles COL5A2
OMIM - Gene 120190
OMIM - Diseases EDSCL2 (Ehlers-Danlos, classic syndrome, type 2 (EDSCL2 EDS2))
HGMD COL5A2
GeneCards COL5A2
GeneTests COL5A2
Orphanet COL5A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001229 2 collagen, type V, alpha 2 NM_000393.3 NP_000384.2 274


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2009-2024. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.