ClinVar

NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)

Gene:

TPM2:tropomyosin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 35685529 (on Assembly GRCh38)
• Chr9: 35685526 (on Assembly GRCh37)

Preferred name:

NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)

HGVS:

• NC_000009.12:g.35685529G>A
• NG_011620.1:g.9529C>T
• NM_001301226.2:c.397C>T
• NM_001301227.2:c.397C>T
• NM_003289.4:c.397C>TMANE SELECT
• NM_213674.1:c.397C>T
• NP_001288155.1:p.Arg133Trp
• NP_001288156.1:p.Arg133Trp
• NP_003280.2:p.Arg133Trp
• NP_003280.2:p.Arg133Trp
• NP_998839.1:p.Arg133Trp
• LRG_680t1:c.397C>T
• LRG_680t2:c.397C>T
• LRG_680:g.9529C>T
• LRG_680p1:p.Arg133Trp
• LRG_680p2:p.Arg133Trp
• NC_000009.11:g.35685526G>A
• NM_001301227.1:c.397C>T
• NM_003289.3:c.397C>T
• P07951:p.Arg133Trp
• p.(Arg133Trp)
• r.(?)

This HGVS expression did not pass validation

Protein change:

R133W; ARG133TRP

Links:

UniProtKB: P07951#VAR_070981; OMIM: 190990.0004; dbSNP: rs137853305

NCBI 1000 Genomes Browser:

rs137853305

Molecular consequence:

• NM_001301226.2:c.397C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301227.2:c.397C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003289.4:c.397C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_213674.1:c.397C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1