View COL5A2 gene homepage

General information
Gene symbol COL5A2
Gene name collagen type V alpha 2 chain
Chromosome 2
Chromosomal band q32.2
Imprinted Unknown
Genomic reference LRG_738
Transcript reference NM_000393.3
Associated with diseases EDSCL2
Citation reference(s) -
Curators (3) Florian Bayersdorfer, Sabine Heber and Elisabeth Ohmann
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
Date created June 29, 2022
Date last updated June 29, 2022
Version COL5A2:220629

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
HGNC 2210
Entrez Gene 1290
PubMed articles COL5A2
OMIM - Gene 120190
OMIM - Diseases EDSCL2 (EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2)
HGMD COL5A2
GeneCards COL5A2
GeneTests COL5A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000060 2 collagen, type V, alpha 2 NM_000393.3 NP_000384.2 1


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