Description

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

Synonyms

LBN

Location
About this transcript

This transcript has 22 exons, is annotated with 14 domains and features, is associated with 727 variations and maps to 42 oligo probes.

Gene
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

Transcript-based displays