Gene: COL2A1 ENSG00000139219

Description

collagen, type II, alpha 1 [Source:HGNC Symbol;Acc:2200]

Gene Synonyms

ANFH, AOM, COL11A3, SEDC, STL1

Location

Chromosome 12: 48,366,748-48,398,269 reverse strand.

GRCh37:CM000674.1

About this gene

This gene has 9 transcripts (splice variants), 17 paralogues and is associated with 100 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000380518.3	COL2A1-001	5071	1487aa	ENSP00000369889.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS41778	P02458	NM_033150.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000337299.6	COL2A1-008	4257	1418aa	ENSP00000338213.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8759	P02458	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000493991.1	COL2A1-007	3756	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000474996.2	COL2A1-002	760	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000465743.2	COL2A1-005	546	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000466884.1	COL2A1-004	478	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000546974.1	COL2A1-009	703	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000490609.1	COL2A1-003	679	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000483376.1	COL2A1-006	641	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: COL2A1 ENSG00000139219

Summary