Transcript: ENST00000310917.2 EVC2-001

Description

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

Gene Synonyms

LBN

Location

About this transcript

This transcript has 22 exons, is annotated with 14 domains and features, is associated with 75773 variant alleles and maps to 587 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: 22, Coding exons: 21, Transcript length: 4,828 bps, Translation length: 1,228 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q86UK5

CCDS

This transcript is a member of the Human CCDS set: CCDS54718

Version

ENST00000310917.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000246819 (version 3)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.