ClinVar

NM_005551.5(KLK2):c.99G>T (p.Lys33Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50874773 (on Assembly GRCh38)
• Chr19: 51378029 (on Assembly GRCh37)

Preferred name:

NM_005551.5(KLK2):c.99G>T (p.Lys33Asn)

HGVS:

• NC_000019.10:g.50874773G>T
• NG_031984.1:g.6341G>T
• NM_001002231.3:c.99G>T
• NM_001256080.2:c.-101+1254G>T
• NM_005551.5:c.99G>TMANE SELECT
• NP_001002231.1:p.Lys33Asn
• NP_005542.1:p.Lys33Asn
• NC_000019.9:g.51378029G>T
• NM_005551.3:c.99G>T
• NR_045762.2:n.134G>T
• NR_045763.2:n.134G>T

This HGVS expression did not pass validation

Protein change:

K33N

Molecular consequence:

• NM_001256080.2:c.-101+1254G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001002231.3:c.99G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005551.5:c.99G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_045762.2:n.134G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045763.2:n.134G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]