Advanced notice of Ensembl Tools maintenance
Please note that due to planned maintenance, Ensembl Tools will be unavailable from Tuesday, September 9, at 08:30 AM BST until Wednesday, September 10, at 08:30 AM BST.
Jobs submitted during the maintenance window will be queued and processed once maintenance is complete. We apologise for the inconvenience.

Human (GRCh38.p14)
Description

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

Gene Synonyms

CMD1I, CSM1, CSM2, LGMD2R

Location

Chromosome 2: 219,417,474-219,426,739 forward strand.

GRCh38:CM000664.2

About this gene

This gene has 35 transcripts (splice variants), 279 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 PrimaryGENCODE BasicAPPRIS P3TSL:1
ENST00000868989.1DES-2063194486aaENSP00000539048.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942898.1DES-2272359508aaENSP00000612957.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000869000.1DES-2172349506aaENSP00000539059.1
 
Protein coding
--GENCODE Basic
ENST00000868999.1DES-2162315494aaENSP00000539058.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942906.1DES-2352313511aaENSP00000612965.1
 
Protein coding
--GENCODE Basic
ENST00000942903.1DES-2322301490aaENSP00000612962.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000868993.1DES-2102272478aaENSP00000539052.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000868996.1DES-2132266477aaENSP00000539055.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000868997.1DES-2142261476aaENSP00000539056.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000942891.1DES-2202260463aaENSP00000612950.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000868992.1DES-2092245469aaENSP00000539051.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942892.1DES-2212237466aaENSP00000612951.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942901.1DES-2302231466aaENSP00000612960.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000868990.1DES-2072230464aaENSP00000539049.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942893.1DES-2222229464aaENSP00000612952.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000868998.1DES-2152222463aaENSP00000539057.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942894.1DES-2232222462aaENSP00000612953.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000869001.1DES-2182186452aaENSP00000539060.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942905.1DES-2342185453aaENSP00000612964.1
 
Protein coding
--GENCODE Basic
ENST00000942904.1DES-2332160443aaENSP00000612963.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942900.1DES-2292153440aaENSP00000612959.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000868991.1DES-2082152438aaENSP00000539050.1
 
Protein coding
--GENCODE Basic
ENST00000942897.1DES-2262120428aaENSP00000612956.1
 
Protein coding
--GENCODE Basic
ENST00000868995.1DES-2122101422aaENSP00000539054.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942899.1DES-2282034400aaENSP00000612958.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000868994.1DES-2112026396aaENSP00000539053.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942896.1DES-2251940368aaENSP00000612955.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942895.1DES-2241868344aaENSP00000612954.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000869002.1DES-2191857343aaENSP00000539061.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000942902.1DES-2311303157aaENSP00000612961.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
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