ClinVar

NM_001276345.2(TNNT2):c.355C>T (p.His119Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201365247 (on Assembly GRCh38)
• Chr1: 201334375 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.355C>T (p.His119Tyr)

HGVS:

• NC_000001.11:g.201365247G>A
• NG_007556.1:g.17431C>T
• NM_000364.4:c.355C>T
• NM_001001430.3:c.325C>T
• NM_001001431.3:c.325C>T
• NM_001001432.3:c.310C>T
• NM_001276345.2:c.355C>TMANE SELECT
• NM_001276346.2:c.291+363C>T
• NM_001276347.2:c.325C>T
• NP_000355.2:p.His119Tyr
• NP_001001430.1:p.His109Tyr
• NP_001001431.1:p.His109Tyr
• NP_001001432.1:p.His104Tyr
• NP_001263274.1:p.His119Tyr
• NP_001263276.1:p.His109Tyr
• LRG_431t1:c.355C>T
• LRG_431:g.17431C>T
• LRG_431p1:p.His119Tyr
• NC_000001.10:g.201334375G>A
• NM_001001430.1:c.325C>T
• c.325C>T

This HGVS expression did not pass validation

Protein change:

H104Y

Links:

dbSNP: rs397516460

NCBI 1000 Genomes Browser:

rs397516460

Molecular consequence:

• NM_001276346.2:c.291+363C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000364.4:c.355C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.325C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.325C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.310C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.355C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.325C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1