ClinVar

NM_005551.5(KLK2):c.324T>A (p.His108Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50876589 (on Assembly GRCh38)
• Chr19: 51379845 (on Assembly GRCh37)

Preferred name:

NM_005551.5(KLK2):c.324T>A (p.His108Gln)

HGVS:

• NC_000019.10:g.50876589T>A
• NG_031984.1:g.8157T>A
• NM_001002231.3:c.324T>A
• NM_001256080.2:c.18T>A
• NM_005551.5:c.324T>AMANE SELECT
• NP_001002231.1:p.His108Gln
• NP_001243009.1:p.His6Gln
• NP_005542.1:p.His108Gln
• NC_000019.9:g.51379845T>A
• NM_005551.3:c.324T>A
• NR_045762.2:n.359T>A
• NR_045763.2:n.445T>A

This HGVS expression did not pass validation

Protein change:

H108Q

Molecular consequence:

• NM_001002231.3:c.324T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256080.2:c.18T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005551.5:c.324T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_045762.2:n.359T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045763.2:n.445T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]