TNNT2

troponin T2, cardiac type

Summary

This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. [provided by RefSeq, May 2022]

Known Variants723 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs965478451	1:201,328,158	T/A	—	likely benign
rs534887070	1:201,328,168	G/C	—	benign
rs554553266	1:201,328,188	G/A	—	benign
rs185927345	1:201,328,215	G/A	—	benign
rs1332164076	1:201,328,250	G/C	—	benign
rs1377480970	1:201,328,257	A/G	—	likely benign
rs3730244	1:201,328,267	G/A	—	benign
rs3729998	1:201,328,272	T/C	—	likely benign
rs766030869	1:201,328,298	T/G	—	benign
rs553116893	1:201,328,299	G/A	—	conflicting classifications of pathogenicity
rs149240770	1:201,328,301	G/A	—	conflicting classifications of pathogenicity
rs757948388	1:201,328,304	C/A	—	likely benign
rs529731863	1:201,328,335	G/T	—	conflicting classifications of pathogenicity
rs1449258380	1:201,328,336	C/T	—	uncertain significance
rs1311267989	1:201,328,338	C/T	—	likely benign
rs2526877218	1:201,328,340	A/G	—	uncertain significance
rs770794082	1:201,328,342	T/G	—	uncertain significance
rs730881116	1:201,328,344	C/T	stop gained	pathogenic
rs727504247	1:201,328,345	C/A	missense variant	uncertain significance
rs141121678	1:201,328,348	C/T	missense variant	pathogenic
rs367785431	1:201,328,349	G/T	missense variant	pathogenic
rs2102212901	1:201,328,350	C/T	—	likely benign
rs1272169178	1:201,328,351	C/T	—	uncertain significance
rs147940106	1:201,328,352	C/T	—	uncertain significance
rs45465693	1:201,328,353	G/A	—	likely benign
rs1251750348	1:201,328,356	G/A	—	likely benign
rs730880233	1:201,328,357	A/T	—	uncertain significance
rs1553279043	1:201,328,361	T/C	—	uncertain significance
rs752111672	1:201,328,365	C/A	—	uncertain significance
rs2526878336	1:201,328,367	T/C	—	uncertain significance
rs2526878398	1:201,328,368	C/T	—	likely benign
rs727505233	1:201,328,369	C/T	missense variant	uncertain significance
rs757664792	1:201,328,370	C/T	—	uncertain significance
rs45503195	1:201,328,371	G/A	—	likely benign
rs397516484	1:201,328,372	C/T	missense variant	pathogenic
rs121964857	1:201,328,373	G/A	missense variant	pathogenic
rs754211195	1:201,328,374	G/T	—	likely benign
rs483352836	1:201,328,377	C/T	—	uncertain significance
rs876658029	1:201,328,381	G/T	—	uncertain significance
rs730881114	1:201,328,384	C/A	—	uncertain significance
rs111692981	1:201,328,385	T/G	—	pathogenic
rs749454768	1:201,328,386	G/A	—	conflicting classifications of pathogenicity
rs1233814100	1:201,328,390	G/A	—	likely benign
rs1331994708	1:201,328,392	G/A	—	likely benign
rs778928540	1:201,328,401	C/T	—	likely benign
rs759855940	1:201,328,402	G/A	—	likely benign
rs371692788	1:201,328,406	T/C	—	likely benign
rs45570832	1:201,328,708	G/A	—	likely benign
rs45495692	1:201,328,729	G/A	—	benign
rs2526889732	1:201,328,740	C/T	—	likely benign
rs2526889768	1:201,328,743	A/G	—	likely benign
rs1658220606	1:201,328,745	A/T	—	uncertain significance
rs193922620	1:201,328,746	C/G	—	uncertain significance
rs111377893	1:201,328,750	C/A	—	pathogenic
rs1289010014	1:201,328,751	A/G	—	uncertain significance
rs2102216749	1:201,328,753	T/C	—	conflicting classifications of pathogenicity
rs1553279294	1:201,328,755	T/C	—	pathogenic
rs796925245	1:201,328,758	G/A	—	uncertain significance
rs863225119	1:201,328,760	T/C	missense variant	uncertain significance
rs2102216937	1:201,328,761	T/A	—	uncertain significance
rs2526890724	1:201,328,762	A/G	—	likely benign
rs2526890765	1:201,328,763	T/C	—	uncertain significance
rs121964861	1:201,328,764	C/A	missense variant	uncertain significance
rs376923877	1:201,328,765	G/T	missense variant	pathogenic
rs2102217035	1:201,328,766	T/C	—	uncertain significance
rs4523540	1:201,328,767	T/C	missense variant	uncertain significance
rs1278830616	1:201,328,768	G/A	—	likely benign
rs1553279337	1:201,328,774	G/A	—	likely benign
rs730881125	1:201,328,778	C/T	missense variant	uncertain significance
rs748970759	1:201,328,779	G/A	—	conflicting classifications of pathogenicity
rs2526891525	1:201,328,782	G/T	—	uncertain significance
rs1553279354	1:201,328,784	A/G	—	uncertain significance
rs1571590208	1:201,328,785	C/T	—	uncertain significance
rs397516483	1:201,328,787	T/C	—	uncertain significance
rs371384395	1:201,328,790	A/C	—	uncertain significance
rs1658235582	1:201,328,792	C/A	—	uncertain significance
rs1431082504	1:201,328,795	C/T	—	likely benign
rs773596960	1:201,328,796	A/C	—	uncertain significance
rs2526892411	1:201,328,798	G/A	—	likely benign
rs2526892605	1:201,328,802	A/C	—	uncertain significance
rs917942614	1:201,328,804	T/G	—	uncertain significance
rs1002828059	1:201,328,808	A/G	—	likely benign
rs766756410	1:201,328,809	A/G	—	likely benign
rs1057522713	1:201,328,810	G/C	—	likely benign
rs2275863	1:201,328,824	G/A	—	benign
rs45509695	1:201,328,913	G/C	—	benign
rs45521432	1:201,329,024	C/T	—	likely benign
rs10920181	1:201,330,129	T/C	—	benign
rs12564577	1:201,330,226	G/A	—	benign
rs114141823	1:201,330,271	G/A	—	likely benign
rs45517846	1:201,330,342	C/T	—	likely benign
rs45496994	1:201,330,343	G/C	—	likely benign
rs2275862	1:201,330,366	G/C	—	benign
rs142475266	1:201,330,380	C/G	—	likely benign
rs1319834068	1:201,330,389	G/A	—	likely benign
rs2102228364	1:201,330,392	A/G	—	likely benign
rs369645817	1:201,330,399	C/A	—	uncertain significance
rs373069229	1:201,330,400	G/A	—	conflicting classifications of pathogenicity
rs727504260	1:201,330,401	G/A	—	conflicting classifications of pathogenicity
rs730881113	1:201,330,402	C/T	—	uncertain significance

Showing 100 of 723 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.