ClinVar

NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201364337 (on Assembly GRCh38)
• Chr1: 201333465 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)

HGVS:

• NC_000001.11:g.201364337G>A
• NG_007556.1:g.18341C>T
• NM_000364.4:c.450C>T
• NM_001001430.3:c.420C>T
• NM_001001431.3:c.420C>T
• NM_001001432.3:c.405C>T
• NM_001276345.2:c.450C>TMANE SELECT
• NM_001276346.2:c.330C>T
• NM_001276347.2:c.420C>T
• NP_000355.2:p.Ile150=
• NP_001001430.1:p.Ile140=
• NP_001001431.1:p.Ile140=
• NP_001001432.1:p.Ile135=
• NP_001263274.1:p.Ile150=
• NP_001263275.1:p.Ile110=
• NP_001263276.1:p.Ile140=
• LRG_431t1:c.450C>T
• LRG_431:g.18341C>T
• LRG_431p1:p.Ile150=
• NC_000001.10:g.201333465G>A
• NM_001001430.1:c.420C>T
• NM_001001430.2:c.420C>T
• NM_001276345.2:c.450C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200604266

NCBI 1000 Genomes Browser:

rs200604266

Molecular consequence:

• NM_000364.4:c.450C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001001430.3:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001001431.3:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001001432.3:c.405C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276345.2:c.450C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276346.2:c.330C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276347.2:c.420C>T - synonymous variant - [Sequence Ontology: SO:0001819]