ClinVar

NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)

Gene:

TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201365254 (on Assembly GRCh38)
• Chr1: 201334382 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)

Other names:

p.I106I:ATC>ATT

HGVS:

• NC_000001.11:g.201365254G>A
• NG_007556.1:g.17424C>T
• NM_000364.4:c.348C>T
• NM_001001430.3:c.318C>T
• NM_001001431.3:c.318C>T
• NM_001001432.3:c.303C>T
• NM_001276345.2:c.348C>TMANE SELECT
• NM_001276346.2:c.291+356C>T
• NM_001276347.2:c.318C>T
• NP_000355.2:p.Ile116=
• NP_001001430.1:p.Ile106=
• NP_001001431.1:p.Ile106=
• NP_001001432.1:p.Ile101=
• NP_001263274.1:p.Ile116=
• NP_001263276.1:p.Ile106=
• LRG_431t1:c.348C>T
• LRG_431:g.17424C>T
• LRG_431p1:p.Ile116=
• NC_000001.10:g.201334382G>A
• NM_001001430.1:c.318C>T
• NM_001001430.2:c.318C>T
• NM_001001430.3:c.318C>T
• NM_001276346.1:c.291+356C>T
• c.318C>T
• p.Ile106Ile

This HGVS expression did not pass validation

Links:

dbSNP: rs3729547

NCBI 1000 Genomes Browser:

rs3729547

Molecular consequence:

• NM_001276346.2:c.291+356C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000364.4:c.348C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001001430.3:c.318C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001001431.3:c.318C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001001432.3:c.303C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276345.2:c.348C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276347.2:c.318C>T - synonymous variant - [Sequence Ontology: SO:0001819]