Human (GRCh38.p14)
Description

desmin [Source:HGNC Symbol;Acc:HGNC:2770]

Gene Synonyms

CMD1I, CSM1, CSM2, LGMD2R

Location

Chromosome 2: 219,418,377-219,426,735 forward strand.

GRCh38:CM000664.2

About this gene

This gene has 5 transcripts (splice variants), 280 orthologues, 68 paralogues and is associated with 8 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000373960.4DES-2012243470aaENSP00000363071.3
 
Protein coding
CCDS33383P17661 Q53SB5 NM_001927.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000477226.6DES-2021631No protein-
 
Retained intron
--TSL:4
ENST00000683013.1DES-2051546No protein-
 
Retained intron
---
ENST00000492726.1DES-204706No protein-
 
Retained intron
--TSL:4
ENST00000483395.1DES-203462No protein-
 
Retained intron
--TSL:2