Description

Ellis van Creveld syndrome 2 [Source:HGNC Symbol;Acc:HGNC:19747]

Synonyms

LBN

Location

Chromosome 4: 5,542,772-5,709,548 reverse strand.

GRCh38:CM000666.2

About this gene

This gene has 4 transcripts (splice variants), 56 orthologues, is a member of 1 Ensembl protein family and is associated with 6 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
EVC2-001ENST0000031091748281228aaENSP00000311683
 
Protein coding
CCDS54718Q86UK5 NM_001166136
NP_001159608
TSL:1GENCODE basicAPPRIS ALT2
EVC2-003ENST0000034440843901308aaENSP00000342144
 
Protein coding
CCDS3382Q86UK5 NM_147127
NP_667338
TSL:1GENCODE basicAPPRIS P3
EVC2-002ENST0000047531344561166aaENSP00000431981
 
Nonsense mediated decay
-A0A0C4DGE7 -TSL:1
EVC2-004ENST000005096704079452aaENSP00000423876
 
Nonsense mediated decay
-E9PFT2 -TSL:1

Gene-based displays