ClinVar

NM_001276345.2(TNNT2):c.517G>C (p.Glu173Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201363379 (on Assembly GRCh38)
• Chr1: 201332507 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.517G>C (p.Glu173Gln)

HGVS:

• NC_000001.11:g.201363379C>G
• NG_007556.1:g.19299G>C
• NM_000364.4:c.517G>C
• NM_001001430.3:c.487G>C
• NM_001001431.3:c.487G>C
• NM_001001432.3:c.472G>C
• NM_001276345.2:c.517G>CMANE SELECT
• NM_001276346.2:c.397G>C
• NM_001276347.2:c.487G>C
• NP_000355.2:p.Glu173Gln
• NP_001001430.1:p.Glu163Gln
• NP_001001431.1:p.Glu163Gln
• NP_001001432.1:p.Glu158Gln
• NP_001263274.1:p.Glu173Gln
• NP_001263275.1:p.Glu133Gln
• NP_001263276.1:p.Glu163Gln
• LRG_431t1:c.517G>C
• LRG_431:g.19299G>C
• LRG_431p1:p.Glu173Gln
• NC_000001.10:g.201332507C>G

This HGVS expression did not pass validation

Protein change:

E133Q

Links:

dbSNP: rs1558225569

NCBI 1000 Genomes Browser:

rs1558225569

Molecular consequence:

• NM_000364.4:c.517G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.487G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.487G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.472G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.517G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.397G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.487G>C - missense variant - [Sequence Ontology: SO:0001583]