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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: EXT2 ENSG00000151348

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Description

exostosin glycosyltransferase 2 [Source:HGNC Symbol;Acc:3513]

Gene Synonyms

SOTV

Location

Chromosome 11: 44,117,099-44,266,979 forward strand.

GRCh37:CM000673.1

About this gene

This gene has 11 transcripts (splice variants), 4 paralogues and is associated with 62 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000395673.3	EXT2-201	3454	751aa	ENSP00000379032.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS53618	E9PJA5 E9PNL9 Q93063	NM_000401.3	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000343631.3	EXT2-005	3424	718aa	ENSP00000342656.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7908	E9PJA5 E9PNL9 Q93063	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000533608.1	EXT2-001	3136	718aa	ENSP00000431173.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7908	E9PJA5 E9PNL9 Q93063	NM_207122.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000358681.4	EXT2-002	2997	728aa	ENSP00000351509.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS53619	E9PJA5 E9PNL9 Q93063	NM_001178083.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000532479.1	EXT2-006	580	49aa	ENSP00000433827.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PJA5	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000527014.1	EXT2-007	580	112aa	ENSP00000434716.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PJA5 E9PNL9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000529186.1	EXT2-003	1380	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000531161.1	EXT2-011	747	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000528159.1	EXT2-009	521	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000534048.1	EXT2-010	520	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000525559.1	EXT2-008	448	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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Summary

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