Human (GRCh37.p13)
Description

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

Gene Synonyms

EDDM1, HE1, NP-C2

Location

Chromosome 14: 74,942,895-74,960,880 reverse strand.

GRCh37:CM000676.1

About this gene

This gene has 9 transcripts (splice variants) and is associated with 7 phenotypes.

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