ClinVar

NM_001276345.2(TNNT2):c.767A>G (p.Glu256Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201361322 (on Assembly GRCh38)
• Chr1: 201330450 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.767A>G (p.Glu256Gly)

Other names:

p.E246G:GAG>GGG

HGVS:

• NC_000001.11:g.201361322T>C
• NG_007556.1:g.21356A>G
• NM_000364.4:c.758A>G
• NM_001001430.3:c.737A>G
• NM_001001431.3:c.728A>G
• NM_001001432.3:c.719A>G
• NM_001276345.2:c.767A>GMANE SELECT
• NM_001276346.2:c.638A>G
• NM_001276347.2:c.737A>G
• NP_000355.2:p.Glu253Gly
• NP_001001430.1:p.Glu246Gly
• NP_001001431.1:p.Glu243Gly
• NP_001001432.1:p.Glu240Gly
• NP_001263274.1:p.Glu256Gly
• NP_001263275.1:p.Glu213Gly
• NP_001263276.1:p.Glu246Gly
• LRG_431t1:c.767A>G
• LRG_431:g.21356A>G
• LRG_431p1:p.Glu256Gly
• NC_000001.10:g.201330450T>C
• NM_001001430.1:c.737A>G

This HGVS expression did not pass validation

Protein change:

E213G

Links:

dbSNP: rs730881109

NCBI 1000 Genomes Browser:

rs730881109

Molecular consequence:

• NM_000364.4:c.758A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.737A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.728A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.719A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.767A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.638A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.737A>G - missense variant - [Sequence Ontology: SO:0001583]