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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: FBN2 ENSG00000138829

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Description

fibrillin 2 [Source:HGNC Symbol;Acc:3604]

Gene Synonyms

CCA, DA9

Location

Chromosome 5: 127,593,601-127,994,878 reverse strand.

GRCh37:CM000667.1

About this gene

This gene has 7 transcripts (splice variants), 7 paralogues and is associated with 5 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000508053.1	FBN2-001	11132	2912aa	ENSP00000424571.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34222	P35556	-	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000262464.4	FBN2-201	10724	2912aa	ENSP00000262464.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34222	P35556	NM_001999.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000508989.1	FBN2-005	4987	1473aa	ENSP00000425596.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6REJ2 D6RJI3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000502468.1	FBN2-004	1947	341aa	ENSP00000424753.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PHW4	-	-
ENST00000507835.1	FBN2-006	1884	356aa	ENSP00000426839.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6REJ2	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000511489.1	FBN2-007	742	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000514742.1	FBN2-003	1977	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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