ClinVar

NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)

Gene:

TPM2:tropomyosin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 35689265 (on Assembly GRCh38)
• Chr9: 35689262 (on Assembly GRCh37)

Preferred name:

NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)

HGVS:

• NC_000009.12:g.35689265C>T
• NG_011620.1:g.5793G>A
• NM_001301226.2:c.121G>A
• NM_001301227.2:c.121G>A
• NM_003289.4:c.121G>AMANE SELECT
• NM_213674.1:c.121G>A
• NP_001288155.1:p.Glu41Lys
• NP_001288156.1:p.Glu41Lys
• NP_003280.2:p.Glu41Lys
• NP_003280.2:p.Glu41Lys
• NP_998839.1:p.Glu41Lys
• LRG_680t1:c.121G>A
• LRG_680t2:c.121G>A
• LRG_680:g.5793G>A
• LRG_680p1:p.Glu41Lys
• LRG_680p2:p.Glu41Lys
• NC_000009.11:g.35689262C>T
• NM_003289.3:c.121G>A
• P07951:p.Glu41Lys

This HGVS expression did not pass validation

Protein change:

E41K; GLU41LYS

Links:

UniProtKB: P07951#VAR_070978; OMIM: 190990.0005; dbSNP: rs137853306

NCBI 1000 Genomes Browser:

rs137853306

Molecular consequence:

• NM_001301226.2:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301227.2:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003289.4:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_213674.1:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]