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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: DES ENSG00000175084

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Description

desmin [Source:HGNC Symbol;Acc:2770]

Gene Synonyms

CMD1I, CSM1, CSM2, LGMD2R

Location

Chromosome 2: 220,283,099-220,291,461 forward strand.

GRCh37:CM000664.1

About this gene

This gene has 4 transcripts (splice variants), 9 paralogues and is associated with 9 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000373960.3	DES-001	2248	470aa	ENSP00000363071.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33383	L7R9R4 P17661 Q2PUK1 Q53SB5 Q9GZR6	NM_001927.3	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000477226.1	DES-006	760	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000492726.1	DES-007	706	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000483395.1	DES-008	462	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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