Gene

TNNT2

troponin T2, cardiac type

Cytogenetic location: 1q32.1
Coordinates: Chromosome 1: 201,359,014–201,377,680 (GRCh38)
Exons: 17 exons across 18.7 kb
Protein: 298 amino acids
Inheritance: Autosomal dominant
Also known as: CMPD2
Previous symbols: CMH2, CMD1D
MANE Select transcript: ENST00000656932.1NM_001276345.2
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

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Curated reports relevant to this gene

Dilated Cardiomyopathy
- Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.
  - ClinGen rates the link definitive
  - 3 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  What knowing changes
  Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.
Left Ventricular Noncompaction
- A heart muscle condition with a thick, spongy inner layer of the left ventricle, linked to sarcomere genes such as MYH7, ACTC1, TNNT2, TPM1 and MYBPC3, and to LDB3, PRDM16 and MIB1.
  - ClinGen rates the link definitive
  - 3 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  What knowing changes
  Knowing about it supports heart imaging and rhythm monitoring and screening of relatives.
Restrictive Cardiomyopathy
- Familial Restrictive Cardiomyopathy 3 (TNNT2)Autosomal dominant
  A form of restrictive cardiomyopathy caused by changes in the sarcomere gene TNNT2.
  - 1 GenCC submitter rates it definitive or strong

Broader groupings

Hypertrophic Cardiomyopathy
- Autosomal dominant
  One of 62 genes linked to it
  A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
  - 3 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  What knowing changes
  Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

Inheritance

Autosomal dominant: One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How a genome test reads TNNT2

positions in TNNT2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 18.7 kb of TNNT2, introns included, not only the 1.2 kb of exons.

Variants with a page (36)

The TNNT2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
c.851+1G>A		Intron 16	201,359,622	Likely pathogenic	3 stars out of 4 reviewed by expert panel
R104H	c.311G>A	Exon 10	201,365,291	Likely pathogenic	3 stars out of 4 reviewed by expert panel
W297X	c.890G>A	Exon 17	201,359,217	Likely pathogenic	3 stars out of 4 reviewed by expert panel
A182S	c.544G>T	Exon 12	201,363,352	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.851+1G>T		Intron 16	201,359,622	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.891G>A		Exon 17	201,359,216	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
D96A	c.287A>C	Exon 9	201,365,617	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
E173del	c.517_519del	Exon 12	201,363,376	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
E173K	c.517G>A	Exon 12	201,363,379	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
F120I	c.358T>A	Exon 10	201,365,244	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 36 TNNT2 variants →

Traits linked to TNNT2

The Human Phenotype Ontology lists these as features of the rare conditions TNNT2 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the cardiovascular system

Show 24 more traits

Laboratory abnormality

Abnormality of the musculoskeletal system

Abnormality of the respiratory system

Abnormality of blood and blood-forming tissues

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). TNNT2 gene: troponin T2, cardiac type. Retrieved 16 October 2026, from https://dantelabs.com/genes/tnnt2

Vancouver

Dante Labs. TNNT2 gene: troponin T2, cardiac type [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tnnt2

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