The COL2A1 gene homepage

General information
Gene symbol	COL2A1
Gene name	collagen, type II, alpha 1
Chromosome	12
Chromosomal band	q12-q13.2
Imprinted	Unknown
Genomic reference	NG_008072.1
Transcript reference	NM_001844.4
Exon/intron information	NM_001844.4 exon/intron table
Associated with diseases	ACG, ACG2, ANFH1, EDMMD, ID, Kniest, LCPD, OSCDP, OSMEDB, PLSDT, SED, SEDC, SEDN, SEDSTN, SEDT, SEMDSTWK, SPDA, STL1, dysplasia, Czech, dysspondylo-enchondromatose, Stickler sydrome, type I, nonsyndromic ocular, vitreoretinopathy, with phalangeal epiphyseal dysplasia
Citation reference(s)	-
Refseq URL	Genomic reference sequence
Curators (2)	Mouna Barat-Houari and Isabelle Touitou
Total number of public variants reported	1409
Unique public DNA variants reported	811
Individuals with public variants	2240
Hidden variants	21
Download all this gene's data	Download all data
Notes	Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created	April 29, 2010
Date last updated	April 19, 2024
Version	COL2A1:240419

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_001844.4.
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	2200
Entrez Gene	1280
PubMed articles	COL2A1
OMIM - Gene	120140
OMIM - Diseases	ACG2 (achondrogenesis, type II (hypochondrogenesis, ACG-2)) ANFH1 (necrosis, avascular, femoral head (ANFH)) EDMMD (dysplasia, epiphyseal, multiple, with myopia and deafness (EDMMD)) Kniest (dysplasia, Kniest) LCPD (Legg-Calve-Perthes disease (LCPD)) OSCDP (osteoarthritis, with mild chondrodysplasia (OSCDP)) OSMEDB (Otospondylomegaepiphyseal dysplasia, autosomal recessive) PLSDT (dysplasia, skeletal, platyspondylic, Torrance type (PLSDT)) SED (dysplasia, spondyloperipheral (SED)) SEDC (dysplasia, spondyloepiphyseal, congenita (SEDC)) SEDSTN (Spondyloepiphyseal dysplasia, Stanescu type) SEMDSTWK (dysplasia, spondyloepimetaphyseal, Strudwick type (SEMDSTWK)) STL1 (Stickler syndrome, type I (STL-1)) dysplasia, Czech Stickler sydrome, type I, nonsyndromic ocular
HGMD	COL2A1
GeneCards	COL2A1
Orphanet	COL2A1

Active transcripts

Legend

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How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00005457	12	transcript variant 1	NM_001844.4	NP_001835.3	1409

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 © 2010-2024. 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.

Global Variome shared LOVD

COL2A1 (collagen, type II, alpha 1)