Human (GRCh38.p14)
Description

torsin family 2 member A [Source:HGNC Symbol;Acc:HGNC:11996]

Gene Synonyms

FLJ14771, TORP1

About this transcript

This transcript has 5 exons, is annotated with 14 domains and features, is associated with 2001 variant alleles and maps to 305 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000373284.10TOR2A-2031500321aaENSP00000362381.5
 
Protein coding
CCDS43879Q5JU69-1 NM_001085347.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000373281.8TOR2A-2022477253aaENSP00000362378.5
 
Protein coding
CCDS6876Q5JU69-2 -GENCODE basicTSL:1
ENST00000463577.2TOR2A-205221172aaENSP00000485268.1
 
Protein coding
CCDS48025Q5JU69-5 -GENCODE basicTSL:1
ENST00000336067.10TOR2A-2011370242aaENSP00000338317.6
 
Protein coding
CCDS48024Q8N2E6-1 -GENCODE basicTSL:2
ENST00000496460.5TOR2A-20993372aaENSP00000485544.1
 
Nonsense mediated decay
CCDS48025Q5JU69-5 -TSL:2
ENST00000493439.1TOR2A-20785572aaENSP00000485360.1
 
Nonsense mediated decay
CCDS48025Q5JU69-5 -TSL:2
ENST00000463256.5TOR2A-20483172aaENSP00000485648.1
 
Nonsense mediated decay
CCDS48025Q5JU69-5 -TSL:2
ENST00000472723.1TOR2A-2063496No protein-
 
Retained intron
--TSL:2
ENST00000494135.1TOR2A-208678No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 5, Coding exons: 5, Transcript length: 1,500 bps, Translation length: 321 residues

MANE

This MANE Select transcript contains ENSP00000362381 and matches to NM_001085347.3 and NP_001078816.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q5JU69

CCDS

This transcript is a member of the Human CCDS set: CCDS43879

Transcript Support Level (TSL)

TSL:1

Version

ENST00000373284.10

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.