ClinVar

NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201359245 (on Assembly GRCh38)
• Chr1: 201328373 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)

Other names:

p.R278C:CGC>TGC

HGVS:

• NC_000001.11:g.201359245G>A
• NG_007556.1:g.23433C>T
• NM_000364.4:c.853C>T
• NM_001001430.3:c.832C>T
• NM_001001431.3:c.823C>T
• NM_001001432.3:c.814C>T
• NM_001276345.2:c.862C>TMANE SELECT
• NM_001276346.2:c.733C>T
• NM_001276347.2:c.832C>T
• NP_000355.2:p.Arg285Cys
• NP_001001430.1:p.Arg278Cys
• NP_001001431.1:p.Arg275Cys
• NP_001001432.1:p.Arg272Cys
• NP_001263274.1:p.Arg288Cys
• NP_001263275.1:p.Arg245Cys
• NP_001263276.1:p.Arg278Cys
• LRG_431t1:c.862C>T
• LRG_431:g.23433C>T
• LRG_431p1:p.Arg288Cys
• NC_000001.10:g.201328373G>A
• NM_000364.3:c.853C>T
• NM_001001430.1:c.832C>T
• NM_001001430.2:c.832C>T
• NM_001001430.3:c.832C>T
• NM_001276345.1:c.862C>T
• c.832C>T

This HGVS expression did not pass validation

Protein change:

R245C; ARG278CYS

Links:

OMIM: 191045.0004; dbSNP: rs121964857

NCBI 1000 Genomes Browser:

rs121964857

Molecular consequence:

• NM_000364.4:c.853C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.823C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.814C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.733C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1