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 260
Unique public DNA variants reported 196
Individuals with public variants 532
Hidden variants 4
Download all this gene's data Download all data
Date created October 06, 2009
Date last updated April 16, 2023
Version COL5A2:230416

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

Active transcripts




NCBI ID     

NCBI Protein ID     

00001229 2 collagen, type V, alpha 2 NM_000393.3 NP_000384.2 260

Copyright & disclaimer
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