ClinVar

NM_001276345.2(TNNT2):c.342G>A (p.Ala114=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201365260 (on Assembly GRCh38)
• Chr1: 201334388 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.342G>A (p.Ala114=)

HGVS:

• NC_000001.11:g.201365260C>T
• NG_007556.1:g.17418G>A
• NM_000364.4:c.342G>A
• NM_001001430.3:c.312G>A
• NM_001001431.3:c.312G>A
• NM_001001432.3:c.297G>A
• NM_001276345.2:c.342G>AMANE SELECT
• NM_001276346.2:c.291+350G>A
• NM_001276347.2:c.312G>A
• NP_000355.2:p.Ala114=
• NP_001001430.1:p.Ala104=
• NP_001001431.1:p.Ala104=
• NP_001001432.1:p.Ala99=
• NP_001263274.1:p.Ala114=
• NP_001263276.1:p.Ala104=
• LRG_431t1:c.342G>A
• LRG_431:g.17418G>A
• LRG_431p1:p.Ala114=
• NC_000001.10:g.201334388C>T
• NC_000001.10:g.201334388C>T
• NM_001001430.1:c.312G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs918054429

NCBI 1000 Genomes Browser:

rs918054429

Molecular consequence:

• NM_001276346.2:c.291+350G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000364.4:c.342G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001001430.3:c.312G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001001431.3:c.312G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001001432.3:c.297G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276345.2:c.342G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276347.2:c.312G>A - synonymous variant - [Sequence Ontology: SO:0001819]