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Human (GRCh37.p13)
Description

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

Gene Synonyms

LBN

Location
About this transcript

This transcript has 23 exons, is annotated with 6 domains and features, is associated with 75296 variant alleles and maps to 604 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000344408.5EVC2-00343901308aaENSP00000342144.5
 
Protein coding
CCDS3382Q4W5A4 Q4W5B1 Q86UK5
NM_147127.4Ensembl CanonicalGENCODE basic
ENST00000310917.2EVC2-00148281228aaENSP00000311683.2
 
Protein coding
CCDS54718Q4W5A4 Q4W5B1 Q86UK5
NM_001166136.1GENCODE basic
ENST00000344938.1EVC2-20137951246aaENSP00000339954.1
 
Protein coding
Q4W5A4 Q86UK5 -GENCODE basic
ENST00000475313.1EVC2-00244561166aaENSP00000431981.1
 
Nonsense mediated decay
Q4W5A4 Q86UK5 --
ENST00000509670.1EVC2-0044079452aaENSP00000423876.1
 
Nonsense mediated decay
E9PFT2 Q4W5A4 --
Statistics

Exons: 23, Coding exons: 10, Transcript length: 4,079 bps, Translation length: 452 residues

Version

ENST00000509670.1

Type

Nonsense mediated decay

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000358274 (version 1)