ClinVar

NM_001276345.2(TNNT2):c.412G>A (p.Glu138Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201364375 (on Assembly GRCh38)
• Chr1: 201333503 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.412G>A (p.Glu138Lys)

Other names:

p.E128K:GAG>AAG

HGVS:

• NC_000001.11:g.201364375C>T
• NG_007556.1:g.18303G>A
• NM_000364.4:c.412G>A
• NM_001001430.2:c.382G>A
• NM_001001430.3:c.382G>A
• NM_001001431.3:c.382G>A
• NM_001001432.3:c.367G>A
• NM_001276345.2:c.412G>AMANE SELECT
• NM_001276346.2:c.292G>A
• NM_001276347.2:c.382G>A
• NP_000355.2:p.Glu138Lys
• NP_001001430.1:p.Glu128Lys
• NP_001001431.1:p.Glu128Lys
• NP_001001432.1:p.Glu123Lys
• NP_001263274.1:p.Glu138Lys
• NP_001263275.1:p.Glu98Lys
• NP_001263276.1:p.Glu128Lys
• LRG_431t1:c.412G>A
• LRG_431:g.18303G>A
• LRG_431p1:p.Glu138Lys
• NC_000001.10:g.201333503C>T
• NM_001001430.1:c.382G>A
• NM_001276345.2:c.412G>A

This HGVS expression did not pass validation

Protein change:

E123K

Links:

dbSNP: rs730881100

NCBI 1000 Genomes Browser:

rs730881100

Molecular consequence:

• NM_000364.4:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.382G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.382G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.367G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.382G>A - missense variant - [Sequence Ontology: SO:0001583]