ANKRD2

ankyrin repeat domain 2

Summary

This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Known Variants23 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12219064	10:99,332,223	C/G	—	benign
rs746966764	10:99,332,498	G/A	—	uncertain significance
rs200310346	10:99,332,531	C/T	—	uncertain significance
rs780964391	10:99,332,570	G/A	—	uncertain significance
rs147018759	10:99,332,574	C/T	—	uncertain significance
rs181283492	10:99,332,579	C/A	—	uncertain significance
rs745475472	10:99,337,569	G/A	—	uncertain significance
rs2540045586	10:99,337,594	A/T	—	uncertain significance
rs2040851526	10:99,338,030	C/G	—	uncertain significance
rs140040097	10:99,338,122	C/G	—	likely benign
rs36020819	10:99,338,262	C/T	—	likely benign
rs2540048087	10:99,338,298	A/T	—	uncertain significance
rs1261696605	10:99,338,301	G/A	—	uncertain significance
rs981478720	10:99,338,336	G/T	—	uncertain significance
rs144335975	10:99,340,619	G/A	—	uncertain significance
rs769145126	10:99,341,121	G/T	—	uncertain significance
rs1201965823	10:99,342,114	G/A	—	uncertain significance
rs143138428	10:99,343,335	A/G	—	benign
rs148239796	10:99,343,346	C/T	—	uncertain significance
rs1421942841	10:99,343,368	G/C	—	uncertain significance
rs141723621	10:99,343,370	A/T	—	uncertain significance
rs773960501	10:99,343,412	C/T	—	uncertain significance
rs767651764	10:99,343,415	A/G	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.