Human (GRCh38.p14)
Description

glucosylceramidase beta 2 [Source:HGNC Symbol;Acc:HGNC:18986]

Gene Synonyms

AD035, DKFZP762K054, KIAA1605, SPG46

Location
About this transcript

This transcript has 17 exons, is annotated with 15 domains and features, is associated with 5597 variant alleles and maps to 628 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000378103.7GBA2-2033611927aaENSP00000367343.3
 
Protein coding
CCDS6589Q9HCG7-1 NM_020944.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000378094.4GBA2-2023757877aaENSP00000367334.4
 
Protein coding
CCDS83363Q9HCG7-2 -GENCODE basicTSL:1
ENST00000378088.1GBA2-2011672172aaENSP00000367328.1
 
Protein coding
A0A0A0MRV1 -GENCODE basicTSL:2
ENST00000467252.5GBA2-2041913No protein-
 
Protein coding CDS not defined
--TSL:1
ENST00000489025.1GBA2-208836No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000486797.1GBA2-206772No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000485259.1GBA2-205717No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000488292.1GBA2-207646No protein-
 
Protein coding CDS not defined
--TSL:4
Statistics

Exons: 17, Coding exons: 17, Transcript length: 3,611 bps, Translation length: 927 residues

MANE

This MANE Select transcript contains ENSP00000367343 and matches to NM_020944.3 and NP_065995.1

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9HCG7

CCDS

This transcript is a member of the Human CCDS set: CCDS6589

Transcript Support Level (TSL)

TSL:1

Version

ENST00000378103.7

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.