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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: HMGCS2 ENSG00000134240

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Description

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) [Source:HGNC Symbol;Acc:5008]

Location

Chromosome 1: 120,290,619-120,311,528 reverse strand.

GRCh37:CM000663.1

About this gene

This gene has 4 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000369406.3	HMGCS2-001	2428	508aa	ENSP00000358414.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS905	P54868	NM_005518.3	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000544913.2	HMGCS2-004	1925	466aa	ENSP00000439495.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS53353	P54868	NM_001166107.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000476640.1	HMGCS2-002	857	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000472375.1	HMGCS2-003	634	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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