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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: ACTN2 ENSG00000077522

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Description

actinin, alpha 2 [Source:HGNC Symbol;Acc:164]

Gene Synonyms

CMD1AA

Location

Chromosome 1: 236,849,754-236,927,931 forward strand.

GRCh37:CM000663.1

About this gene

This gene has 7 transcripts (splice variants), 12 paralogues and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000366578.4	ACTN2-001	4863	894aa	ENSP00000355537.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1613	B7Z4P8 P35609	NM_001278344.1	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,
ENST00000542672.1	ACTN2-201	2905	894aa	ENSP00000443495.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS60455	B2RCS5 B7Z4K1 B7Z4P6 B7Z4P8	NM_001278343.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000546208.1	ACTN2-202	1994	388aa	ENSP00000438384.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7Z4P8	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000492634.1	ACTN2-004	1632	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000461367.1	ACTN2-002	841	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000494762.1	ACTN2-003	453	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000492101.1	ACTN2-005	341	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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