View COL5A2 gene homepage - Labor Staber Humangenetik

Labor Staber Humangenetik

collagen type V alpha 2 chain (COL5A2)

LOVD v.3.0 Build 16 [ Current LOVD status ]
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Curators: Florian Bayersdorfer, Sabine Heber and Elisabeth Ohmann

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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

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000060	2	collagen, type V, alpha 2	NM_000393.3	NP_000384.2	1

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