ClinVar

NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201364369 (on Assembly GRCh38)
• Chr1: 201333497 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)

Other names:

p.R130C:CGT>TGT

HGVS:

• NC_000001.11:g.201364369G>A
• NG_007556.1:g.18309C>T
• NM_000364.4:c.418C>T
• NM_001001430.3:c.388C>T
• NM_001001431.3:c.388C>T
• NM_001001432.3:c.373C>T
• NM_001276345.2:c.418C>TMANE SELECT
• NM_001276346.2:c.298C>T
• NM_001276347.2:c.388C>T
• NP_000355.2:p.Arg140Cys
• NP_001001430.1:p.Arg130Cys
• NP_001001431.1:p.Arg130Cys
• NP_001001432.1:p.Arg125Cys
• NP_001263274.1:p.Arg140Cys
• NP_001263275.1:p.Arg100Cys
• NP_001263276.1:p.Arg130Cys
• LRG_431t1:c.418C>T
• LRG_431:g.18309C>T
• LRG_431p1:p.Arg140Cys
• NC_000001.10:g.201333497G>A
• NM_000364.3:c.418C>T
• NM_001001430.1:c.388C>T
• NM_001001430.2:c.388C>T
• NM_001001430.3:c.388C>T
• c.388C>T

This HGVS expression did not pass validation

Protein change:

R100C

Links:

dbSNP: rs397516463

NCBI 1000 Genomes Browser:

rs397516463

Molecular consequence:

• NM_000364.4:c.418C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.418C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]