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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: EVC2 ENSG00000173040

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Description

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

Gene Synonyms

LBN

Location

Chromosome 4: 5,544,499-5,711,275 reverse strand.

GRCh37:CM000666.1

About this gene

This gene has 5 transcripts (splice variants) and is associated with 6 phenotypes.

Transcripts

Show transcript tableHide transcript table

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	-	-

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Summary

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