Description

hemochromatosis type 2 (juvenile) [Source:HGNC Symbol;Acc:HGNC:4887]

Synonyms

HJV, JH, haemojuvelin, HFE2A, hemojuvelin, RGMC

About this transcript

This transcript has 3 exons, is annotated with 5 domains and features, is associated with 181 variations and maps to 190 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HFE2-201ENST00000336751.102234426aaENSP00000337014
 
Protein coding
CCDS72879A0A024R4F5 Q6ZVN8 NM_001316767
NM_213653
NP_001303696
NP_998818
TSL:2GENCODE basicAPPRIS P1
HFE2-202ENST00000357836.52123313aaENSP00000350495
 
Protein coding
CCDS72878A8K466 Q6ZVN8 NM_145277
NP_660320
TSL:1GENCODE basic
HFE2-205ENST00000497365.51419200aaENSP00000421820
 
Protein coding
CCDS72877Q6ZVN8 NM_202004
NP_973733
TSL:1GENCODE basic
HFE2-204ENST00000475797.11381200aaENSP00000425716
 
Protein coding
CCDS72877Q6ZVN8 NM_213652
NP_998817
TSL:2GENCODE basic
HFE2-207ENST00000636675.11280200aaENSP00000490072
 
Protein coding
CCDS72877Q6ZVN8 -TSL:5GENCODE basic
HFE2-203ENST00000421822.253693aaENSP00000411863
 
Protein coding
-F8W6J7 -CDS 3' incompleteTSL:4
HFE2-206ENST00000634927.150670aaENSP00000489347
 
Protein coding
-A0A0U1RR55 -TSL:4GENCODE basic
Statistics

Exons: 3, Coding exons: 1, Transcript length: 1,419 bps, Translation length: 200 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS72877

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q6ZVN8

Transcript Support Level (TSL)

TSL:1

Version

ENST00000497365.5

Type

Known protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

GENCODE basic gene

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

Transcript-based displays