Description

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

Synonyms

LBN

Location
INSDC coordinates

chromosome:GRCh38:CM000666.2:5542772:5709548:1

Transcripts

This gene has 4 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDLengthProteinBiotypeCCDSUniProtRefSeqFlags
EVC2-001ENST000003109174828 bp1228 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS54718Q4W5A4 Q4W5B1 Q86UK5
NM_001166136
NP_001159608
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
EVC2-003ENST000003444084390 bp1308 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS3382Q4W5A4 Q4W5B1 Q86UK5
NM_147127
NP_667338
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
EVC2-002ENST000004753134456 bp1166 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-Q4W5A4 Q86UK5 -
EVC2-004ENST000005096704079 bp452 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-E9PFT2 Q4W5A4 -

Gene-based displays