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, NM_033150.2
Associated with diseases	ACG-2, ANFH, EDMMD, ID, Kniest, LCPD, OSCDP, OSMED, PLSDT, SED, SEDC, SEDN, SEDT, SEMD, STL-1, dysplasia, Czech, dysspondylo-enchondromatose, spondyloarthropathy, Stickler sydrome, type I, nonsyndromic ocular, vitreoretinopathy, with phalangeal epiphyseal dysplasia
Citation reference(s)	-
Curators (1)	Johan T. den Dunnen
Total number of public variants reported	337
Unique public DNA variants reported	47
Individuals with public variants	35
Hidden variants	60
Date created	October 29, 2013
Date last updated	September 28, 2016
Version	COL2A1:160928

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
External URL	List of LSDBs for this gene The reference LOVD for this gene, if available
HGNC	HGNC:2200
Entrez Gene	1280
PubMed articles	COL2A1
OMIM - Diseases	ACG-2 (achondrogenesis, type II (hypochondrogenesis, ACG-2)) ANFH (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)) OSMED (dysplasia, otospondylomegaepiphyseal (OSMED)) PLSDT (dysplasia, skeletal, platyspondylic, Torrance type (PLSDT)) SED (dysplasia, spondyloperipheral (SED)) SEDC (dysplasia, spondyloepiphyseal, congenita (SEDC)) SEMD (dysplasia, spondyloepimetaphyseal, Strudwick type (SEMD)) STL-1 (Stickler syndrome, type I (STL-1)) dysplasia, Czech Stickler sydrome, type I, nonsyndromic ocular
HGMD	COL2A1
GeneCards	COL2A1
GeneTests	COL2A1

Active transcripts

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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
00001810	12	transcript variant 1	NM_001844.4	NP_001835.3	337
00024450	12	Manually created transcript	NM_033150.2	-	337

Copyright & disclaimer
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COL2A1 (collagen, type II, alpha 1)