ClinVar

NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201361325 (on Assembly GRCh38)
• Chr1: 201330453 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)

HGVS:

• NC_000001.11:g.201361325G>A
• NG_007556.1:g.21353C>T
• NM_000364.4:c.755C>T
• NM_001001430.3:c.734C>T
• NM_001001431.3:c.725C>T
• NM_001001432.3:c.716C>T
• NM_001276345.2:c.764C>TMANE SELECT
• NM_001276346.2:c.635C>T
• NM_001276347.2:c.734C>T
• NP_000355.2:p.Ala252Val
• NP_001001430.1:p.Ala245Val
• NP_001001431.1:p.Ala242Val
• NP_001001432.1:p.Ala239Val
• NP_001263274.1:p.Ala255Val
• NP_001263275.1:p.Ala212Val
• NP_001263276.1:p.Ala245Val
• LRG_431t1:c.764C>T
• LRG_431:g.21353C>T
• LRG_431p1:p.Ala255Val
• NC_000001.10:g.201330453G>A
• NM_001001430.1:c.734C>T
• NM_001001430.2:c.734C>T

This HGVS expression did not pass validation

Protein change:

A212V

Links:

dbSNP: rs369181536

NCBI 1000 Genomes Browser:

rs369181536

Molecular consequence:

• NM_000364.4:c.755C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.734C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.716C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.764C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.635C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.734C>T - missense variant - [Sequence Ontology: SO:0001583]