ClinVar

NM_005551.5(KLK2):c.718C>T (p.Pro240Ser)

Gene:

KLK2:kallikrein related peptidase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50878491 (on Assembly GRCh38)
• Chr19: 51381747 (on Assembly GRCh37)

Preferred name:

NM_005551.5(KLK2):c.718C>T (p.Pro240Ser)

HGVS:

• NC_000019.10:g.50878491C>T
• NG_031984.1:g.10059C>T
• NM_001002231.3:c.*83C>T
• NM_001256080.2:c.412C>T
• NM_005551.5:c.718C>TMANE SELECT
• NP_001243009.1:p.Pro138Ser
• NP_005542.1:p.Pro240Ser
• NC_000019.9:g.51381747C>T
• NM_005551.3:c.718C>T
• NR_045762.2:n.777C>T
• NR_045763.2:n.839C>T

This HGVS expression did not pass validation

Protein change:

P138S

Molecular consequence:

• NM_001002231.3:c.*83C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001256080.2:c.412C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005551.5:c.718C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_045762.2:n.777C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045763.2:n.839C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]