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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: AFG3L2 ENSG00000141385

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Description

AFG3-like AAA ATPase 2 [Source:HGNC Symbol;Acc:315]

Gene Synonyms

SCA28, SPAX5

Location

Chromosome 18: 12,328,943-12,377,313 reverse strand.

GRCh37:CM000680.1

About this gene

This gene has 4 transcripts (splice variants) and is associated with 7 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000269143.3	AFG3L2-001	3247	797aa	ENSP00000269143.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11859	D3DUJ0 Q9Y4W6	NM_006796.2	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,
ENST00000590811.1	AFG3L2-002	627	209aa	ENSP00000467236.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000588893.1	AFG3L2-004	3367	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000591848.1	AFG3L2-003	446	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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