ClinVar

NM_001276345.2(TNNT2):c.878T>A (p.Val293Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201359229 (on Assembly GRCh38)
• Chr1: 201328357 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.878T>A (p.Val293Asp)

HGVS:

• NC_000001.11:g.201359229A>T
• NG_007556.1:g.23449T>A
• NM_000364.4:c.869T>A
• NM_001001430.3:c.848T>A
• NM_001001431.3:c.839T>A
• NM_001001432.3:c.830T>A
• NM_001276345.2:c.878T>AMANE SELECT
• NM_001276346.2:c.749T>A
• NM_001276347.2:c.848T>A
• NP_000355.2:p.Val290Asp
• NP_001001430.1:p.Val283Asp
• NP_001001431.1:p.Val280Asp
• NP_001001432.1:p.Val277Asp
• NP_001263274.1:p.Val293Asp
• NP_001263275.1:p.Val250Asp
• NP_001263276.1:p.Val283Asp
• LRG_431t1:c.878T>A
• LRG_431:g.23449T>A
• LRG_431p1:p.Val293Asp
• NC_000001.10:g.201328357A>T
• NM_000364.3:c.869T>A

This HGVS expression did not pass validation

Protein change:

V250D

Links:

dbSNP: rs730880233

NCBI 1000 Genomes Browser:

rs730880233

Molecular consequence:

• NM_000364.4:c.869T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.848T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.839T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.878T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.749T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.848T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1