ClinVar

NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201365644 (on Assembly GRCh38)
• Chr1: 201334772 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)

HGVS:

• NC_000001.11:g.201365644G>A
• NG_007556.1:g.17034C>T
• NM_000364.4:c.260C>T
• NM_001001430.3:c.230C>T
• NM_001001431.3:c.230C>T
• NM_001001432.3:c.215C>T
• NM_001276345.2:c.260C>TMANE SELECT
• NM_001276346.2:c.257C>T
• NM_001276347.2:c.230C>T
• NP_000355.2:p.Pro87Leu
• NP_001001430.1:p.Pro77Leu
• NP_001001431.1:p.Pro77Leu
• NP_001001432.1:p.Pro72Leu
• NP_001263274.1:p.Pro87Leu
• NP_001263275.1:p.Pro86Leu
• NP_001263276.1:p.Pro77Leu
• LRG_431t1:c.260C>T
• LRG_431:g.17034C>T
• LRG_431p1:p.Pro87Leu
• NC_000001.10:g.201334772G>A
• NM_000364.2:c.260C>T
• NM_001001430.1:c.230C>T
• NM_001001430.2:c.230C>T
• NM_001276345.2:c.260C>T
• c.230C>T

This HGVS expression did not pass validation

Protein change:

P72L

Links:

dbSNP: rs144900708

NCBI 1000 Genomes Browser:

rs144900708

Molecular consequence:

• NM_000364.4:c.260C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.215C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.260C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.257C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1