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Human (GRCh38.p14)
Description

NPC intracellular cholesterol transporter 2 [Source:HGNC Symbol;Acc:HGNC:14537]

Gene Synonyms

EDDM1, HE1, NP-C2

Location
About this transcript

This transcript has 5 exons, is annotated with 18 domains and features, is associated with 5377 variant alleles and maps to 354 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000555619.6NPC2-207821151aaENSP00000451112.2
 
Protein coding
CCDS32121P61916-1 NM_006432.5MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P4TSL:1
ENST00000541064.5NPC2-2031436125aaENSP00000442488.1
 
Protein coding
CCDS91904P61916-2 -GENCODE BasicTSL:2
ENST00000557510.5NPC2-2091029174aaENSP00000451206.1
 
Protein coding
CCDS86413G3V3E8 -GENCODE BasicTSL:1
ENST00000434013.6NPC2-202875201aaENSP00000412103.2
 
Protein coding
E7EMS2 -GENCODE PrimaryGENCODE BasicTSL:2
ENST00000238633.6NPC2-201796148aaENSP00000238633.2
 
Protein coding
J3KMY5 -GENCODE BasicAPPRIS ALT1TSL:3
ENST00000553490.5NPC2-204729221aaENSP00000451180.1
 
Protein coding
G3V3D1 -TSL:2CDS 3' incomplete
ENST00000556009.5NPC2-208699173aaENSP00000450502.1
 
Protein coding
H0YIZ1 -TSL:5CDS 5' incomplete
ENST00000555592.1NPC2-206469122aaENSP00000450887.1
 
Protein coding
G3V2V8 -TSL:5CDS 3' incomplete
ENST00000554482.1NPC2-20558353aaENSP00000451314.1
 
Nonsense mediated decay
H0YJE2 -TSL:2CDS 5' incomplete
Statistics

Exons: 5, Coding exons: 5, Transcript length: 821 bps, Translation length: 151 residues

MANE

This MANE Select transcript contains ENSP00000451112 and matches to NM_006432.5 and NP_006423.1

Uniprot

This transcript corresponds to the following Uniprot identifiers: P61916

CCDS

This transcript is a member of the Human CCDS set: CCDS32121

Transcript Support Level (TSL)

TSL:1

Version

ENST00000555619.6

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.

GENCODE primary gene

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