The ACTN2 gene homepage

General information
Gene symbol ACTN2
Gene name actinin, alpha 2
Chromosome 1
Chromosomal band q42-q43
Imprinted Not imprinted
Genomic reference NG_009081.1
Transcript reference NM_001103.3
Exon/intron information NM_001103.3 exon/intron table
Associated with diseases CMD1AA, MPD6, MYOCOZ
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Marco Savarese
Total number of public variants reported 406
Unique public DNA variants reported 259
Individuals with public variants 55
Hidden variants 6
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 14, 2013
Date last updated September 17, 2021
Version ACTN2:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001103.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 164
Entrez Gene 88
PubMed articles ACTN2
OMIM - Gene 102573
OMIM - Diseases CMD1AA (CMH23)
MPD6 (myopathy, distal, type 6, adult onset (MPD6))
MYOCOZ (myopathy, congenital with structured cores and Z-line abnormalitie (MYOCOZ))
GeneCards ACTN2
GeneTests ACTN2
Orphanet ACTN2

Active transcripts




NCBI ID     

NCBI Protein ID     

00024136 1 transcript variant 1 NM_001103.3 NP_001094.1 406

Copyright & disclaimer
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