COSMIC:
COSM3757080 (not active)
COSM3757081 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60529169 (AFR)
Genomes Max Group AF
0.59823747 (AFR)
Exomes Max Group AF
0.60971317 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50876637C>T , CM000681.2:g.50876637C>T | GRCh38 |
| NC_000019.9:g.51379893C>T , CM000681.1:g.51379893C>T | GRCh37 |
| NC_000019.8:g.56071705C>T | NCBI36 |
| NG_031984.1:g.8205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325321.8:c.372C>T (KLK2) MANE Select | ENSP00000313581.2:p.Leu124= | |
| ENST00000325321.7:c.372C>T (KLK2) | ENSP00000313581.2:p.Leu124= | |
| ENST00000358049.8:c.372C>T (KLK2) | ENSP00000350748.3:p.Leu124= | |
| ENST00000391810.6:c.66C>T (KLK2) | ENSP00000375686.2:p.Leu22= | |
| ENST00000593493.5:c.66C>T (KLK2) | ENSP00000472852.1:p.Leu22= | |
| ENST00000594174.5:c.*248C>T (KLK2) | ENSP00000472095.1:n.*248C>T | |
| ENST00000595050.1:c.37C>T (KLK2) | ||
| ENST00000595173.1:n.607C>T (KLK2) | ||
| ENST00000595316.5:c.*62C>T (KLK2) | ENSP00000469770.1:n.*62C>T | |
| ENST00000596950.5:n.351C>T (KLK2) | ||
| ENST00000597439.1:c.372C>T (KLK2) | ENSP00000471214.1:p.Leu124= | |
| ENST00000597727.5:c.*62C>T (KLK2) | ENSP00000471014.1:n.*62C>T | |
| ENST00000599121.5:c.*62C>T (KLK2) | ENSP00000472499.1:n.*62C>T | |
| ENST00000599280.5:n.253C>T (KLK2) | ||
| ENST00000599568.1:c.66C>T (KLK2) | ENSP00000471323.1:p.Leu22= | |
| ENST00000600690.5:c.207-11C>T (KLK2) | ENSP00000469318.1:n.207-11C>T | |
| ENST00000600755.5:n.401C>T (KLK2) | ||
| ENST00000600866.1:n.241C>T (KLK2) | ||
| ENST00000601114.1:n.388C>T (KLK2) | ||
| NM_001002231.2:c.372C>T (KLK2) | NP_001002231.1:p.Leu124= | |
| NM_001256080.1:c.66C>T (KLK2) | NP_001243009.1:p.Leu22= | |
| NM_005551.4:c.372C>T (KLK2) | NP_005542.1:p.Leu124= | |
| NR_045762.1:n.413C>T (KLK2) | ||
| NR_045763.1:n.499C>T (KLK2) | ||
| XM_006723206.1:c.372C>T (KLK2) | XP_006723269.1:p.Leu124= | |
| XM_006723208.1:c.66C>T (KLK2) | XP_006723271.1:p.Leu22= | |
| XM_006723209.2:c.372C>T (KLK2) | XP_006723272.1:p.Leu124= | |
| XM_011526943.1:c.372C>T (KLK2) | XP_011525245.1:p.Leu124= | |
| XM_011526944.1:c.372C>T (KLK2) | XP_011525246.1:p.Leu124= | |
| XM_011526945.1:c.372C>T (KLK2) | XP_011525247.1:p.Leu124= | |
| XM_011526946.1:c.372C>T (KLK2) | XP_011525248.1:p.Leu124= | |
| XM_011526947.1:c.372C>T (KLK2) | XP_011525249.1:p.Leu124= | |
| XM_011526948.1:c.372C>T (KLK2) | XP_011525250.1:p.Leu124= | |
| XM_011526949.1:c.66C>T (KLK2) | XP_011525251.1:p.Leu22= | |
| XR_935817.1:n.1325-1044C>T (KLK3) | ||
| XR_935824.1:n.413C>T (KLK2) | ||
| NM_005551.5:c.372C>T (KLK2) MANE Select | NP_005542.1:p.Leu124= | |
| NM_001002231.3:c.372C>T (KLK2) | NP_001002231.1:p.Leu124= | |
| NR_045762.2:n.407C>T (KLK2) | ||
| NR_045763.2:n.493C>T (KLK2) | ||
| NM_001256080.2:c.66C>T (KLK2) | NP_001243009.1:p.Leu22= |