ClinVar

NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 201359636 (on Assembly GRCh38)
• Chr1: 201328764 (on Assembly GRCh37)

Preferred name:

NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)

HGVS:

• NC_000001.11:g.201359636C>T
• NG_007556.1:g.23042G>A
• NM_000364.4:c.829G>A
• NM_001001430.3:c.808G>A
• NM_001001431.3:c.799G>A
• NM_001001432.3:c.790G>A
• NM_001276345.2:c.838G>AMANE SELECT
• NM_001276346.2:c.709G>A
• NM_001276347.2:c.808G>A
• NP_000355.2:p.Asp277Asn
• NP_001001430.1:p.Asp270Asn
• NP_001001431.1:p.Asp267Asn
• NP_001001432.1:p.Asp264Asn
• NP_001263274.1:p.Asp280Asn
• NP_001263275.1:p.Asp237Asn
• NP_001263276.1:p.Asp270Asn
• LRG_431t1:c.838G>A
• LRG_431:g.23042G>A
• LRG_431p1:p.Asp280Asn
• NC_000001.10:g.201328764C>T
• NM_001001430.1:c.808G>A

This HGVS expression did not pass validation

Protein change:

D237N; ASP270ASN

Links:

OMIM: 191045.0010; dbSNP: rs121964861

NCBI 1000 Genomes Browser:

rs121964861

Molecular consequence:

• NM_000364.4:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001430.3:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001431.3:c.799G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001432.3:c.790G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276345.2:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276346.2:c.709G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276347.2:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]