Transcript: ENST00000475313.1 EVC2-002

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 14 domains and features, is associated with 84778 variant alleles and maps to 589 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000310917.2	EVC2-001	4828	1228aa	ENSP00000311683.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54718	Q4W5A4 Q4W5B1 Q86UK5	NM_001166136.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000344408.5	EVC2-003	4390	1308aa	ENSP00000342144.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3382	Q4W5A4 Q4W5B1 Q86UK5	NM_147127.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000344938.1	EVC2-201	3795	1246aa	ENSP00000339954.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q4W5A4 Q86UK5	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000475313.1	EVC2-002	4456	1166aa	ENSP00000431981.1	Nonsense mediated decay		Q4W5A4 Q86UK5	-	-
ENST00000509670.1	EVC2-004	4079	452aa	ENSP00000423876.1	Nonsense mediated decay		E9PFT2 Q4W5A4	-	-

Summary

Statistics

Exons: 23, Coding exons: 21, Transcript length: 4,456 bps, Translation length: 1,166 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q86UK5

Version

ENST00000475313.1

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:	OTTHUMT00000246820 (version 3)