TNNT2

This page contains an overview of the genetic variation in the TNNT2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

TNNT2 gene and transcript details

Gene Name
troponin T type 2 (cardiac)

Gene Links
Ensembl: ENSG00000118194 - Locus Reference Genomic: LRG_431

Genomic Location
Chromosome 1 : 201,328,338 - 201,342,382 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (864 bases)	Protein (288 aa)
	ENST00000367318	ENSP00000356287
	LRG_431t2	LRG_431p2
	NM_001001430.1

Summary of TNNT2 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.01950	0.00242	1.71%
Truncating	0.00180	0.00030	0.15%
Non-Truncating	0.01770	0.00214	1.56%

Based on an analysis of rare variants (MAF<0.0001) in TNNT2 detected in a cohort of 6103 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.02871	0.00242	2.63%
Truncating	0.00000	0.00030	-0.03%
Non-Truncating	0.02871	0.00214	2.66%

Based on an analysis of rare variants (MAF<0.0001) in TNNT2 detected in a cohort of 1254 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

TNNT2 variants in ExAC

Details of the protein-altering TNNT2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

	Total Variants	Combined frequency of rare variants
All Variants	130	0.00193
Truncating	10	0.00015
Missense	78	0.00106
Inframe	1	0.00001
Splice Site	41	0.00072

Rare variants are defined as having a mean allelic frequency of less than 0.0001.