ClinVar

NM_001276345.2(TNNT2):c.419G>A (p.Arg140His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201364368 (on Assembly GRCh38)
• Chr1: 201333496 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.419G>A (p.Arg140His)

HGVS:

• NC_000001.11:g.201364368C>T
• NG_007556.1:g.18310G>A
• NM_000364.4:c.419G>A
• NM_001001430.3:c.389G>A
• NM_001001431.3:c.389G>A
• NM_001001432.3:c.374G>A
• NM_001276345.2:c.419G>AMANE SELECT
• NM_001276346.2:c.299G>A
• NM_001276347.2:c.389G>A
• NP_000355.2:p.Arg140His
• NP_001001430.1:p.Arg130His
• NP_001001431.1:p.Arg130His
• NP_001001432.1:p.Arg125His
• NP_001263274.1:p.Arg140His
• NP_001263275.1:p.Arg100His
• NP_001263276.1:p.Arg130His
• LRG_431t1:c.419G>A
• LRG_431:g.18310G>A
• LRG_431p1:p.Arg140His
• NC_000001.10:g.201333496C>T
• NC_000001.10:g.201333496C>T
• NM_001001430.1:c.389G>A
• NM_001001430.3:c.389G>A

This HGVS expression did not pass validation

Protein change:

R100H

Links:

dbSNP: rs1339922051

NCBI 1000 Genomes Browser:

rs1339922051

Molecular consequence:

• NM_000364.4:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.389G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.389G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.374G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.299G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.389G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1