Human (GRCh37.p13)
Description

Niemann-Pick disease, type C2 [Source:HGNC Symbol;Acc:14537]

Gene Synonyms

EDDM1, HE1, NP-C2

Location
About this transcript

This transcript has 5 exons, is annotated with 8 domains and features, is associated with 6875 variant alleles and maps to 198 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000541064.1NPC2-0021436125aaENSP00000442488.1
 
Protein coding
B4DQV7 G3V2V8 -GENCODE basic
ENST00000555619.1NPC2-0011035151aaENSP00000451112.1
 
Protein coding
CCDS32121P61916 NM_006432.3GENCODE basic
ENST00000557510.1NPC2-0071029174aaENSP00000451206.1
 
Protein coding
G3V3E8 -GENCODE basic
ENST00000434013.2NPC2-003875201aaENSP00000412103.2
 
Protein coding
E7EMS2 -GENCODE basic
ENST00000238633.2NPC2-008796148aaENSP00000238633.2
 
Protein coding
J3KMY5 -GENCODE basic
ENST00000553490.1NPC2-006729221aaENSP00000451180.1
 
Protein coding
G3V3D1 -CDS 3' incomplete
ENST00000556009.1NPC2-004699173aaENSP00000450502.1
 
Protein coding
--CDS 5' incomplete
ENST00000555592.1NPC2-005469122aaENSP00000450887.1
 
Protein coding
G3V2V8 -CDS 3' incomplete
ENST00000554482.1NPC2-00958353aaENSP00000451314.1
 
Nonsense mediated decay
H0YJE2 -CDS 5' incomplete
Statistics

Exons: 5, Coding exons: 5, Transcript length: 875 bps, Translation length: 201 residues

Version

ENST00000434013.2

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.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000412344 (version 1)
GENCODE basic gene

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