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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	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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