ClinVar

NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del)

Gene:

TPM2:tropomyosin 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 35689239 - 35689241 (on Assembly GRCh38)
• Chr9: 35689236 - 35689238 (on Assembly GRCh37)

Preferred name:

NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del)

HGVS:

• NC_000009.12:g.35689241TCT[1]
• NG_011620.1:g.5814AAG[1]
• NM_001301226.2:c.142AAG[1]
• NM_001301227.2:c.142AAG[1]
• NM_003289.4:c.142AAG[1]MANE SELECT
• NM_213674.1:c.142AAG[1]
• NP_001288155.1:p.Lys49del
• NP_001288156.1:p.Lys49del
• NP_003280.2:p.Lys49del
• NP_998839.1:p.Lys49del
• LRG_680t1:c.142AAG[1]
• LRG_680:g.5814AAG[1]
• LRG_680p1:p.Lys49del
• NC_000009.11:g.35689236_35689238del
• NC_000009.11:g.35689238TCT[1]
• p.(Lys49del)

This HGVS expression did not pass validation

Protein change:

K49del

Links:

OMIM: 190990.0007; dbSNP: rs199476147

NCBI 1000 Genomes Browser:

rs199476147

Molecular consequence:

• NM_001301226.2:c.142AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_001301227.2:c.142AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_003289.4:c.142AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_213674.1:c.142AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]