ClinVar

NM_001276345.2(TNNT2):c.427G>C (p.Glu143Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201364360 (on Assembly GRCh38)
• Chr1: 201333488 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.427G>C (p.Glu143Gln)

HGVS:

• NC_000001.11:g.201364360C>G
• NG_007556.1:g.18318G>C
• NM_000364.4:c.427G>C
• NM_001001430.3:c.397G>C
• NM_001001431.3:c.397G>C
• NM_001001432.3:c.382G>C
• NM_001276345.2:c.427G>CMANE SELECT
• NM_001276346.2:c.307G>C
• NM_001276347.2:c.397G>C
• NP_000355.2:p.Glu143Gln
• NP_001001430.1:p.Glu133Gln
• NP_001001431.1:p.Glu133Gln
• NP_001001432.1:p.Glu128Gln
• NP_001263274.1:p.Glu143Gln
• NP_001263275.1:p.Glu103Gln
• NP_001263276.1:p.Glu133Gln
• LRG_431t1:c.427G>C
• LRG_431:g.18318G>C
• LRG_431p1:p.Glu143Gln
• NC_000001.10:g.201333488C>G
• NC_000001.10:g.201333488C>G
• NM_001001430.1:c.397G>C
• NM_001276345.2:c.427G>C

This HGVS expression did not pass validation

Protein change:

E103Q

Links:

dbSNP: rs1316344347

NCBI 1000 Genomes Browser:

rs1316344347

Molecular consequence:

• NM_000364.4:c.427G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.397G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.397G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.382G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.427G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.307G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.397G>C - missense variant - [Sequence Ontology: SO:0001583]