Linked Data
ClinVar Variation Id:
198930
dbSNP Id:
rs760799226
gnomAD v2:
3-64085043-G-A
gnomAD v3:
3-64099367-G-A
gnomAD v4:
3-64099367-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64099367G>A , CM000665.2:g.64099367G>A | GRCh38 |
| NC_000003.11:g.64085043G>A , CM000665.1:g.64085043G>A | GRCh37 |
| NC_000003.10:g.64060083G>A | NCBI36 |
| NG_031930.1:g.131089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295902.11:c.2387C>T (PRICKLE2) | ENSP00000295902.7:p.Ser796Phe | |
| ENST00000564377.6:c.2219C>T (PRICKLE2) | ENSP00000455004.2:p.Ser740Phe | |
| ENST00000638394.2:c.2219C>T (PRICKLE2) MANE Select | ENSP00000492363.1:p.Ser740Phe | |
| ENST00000638436.1:n.820C>T (PRICKLE2) | ||
| ENST00000640303.1:n.2858C>T (PRICKLE2) | ||
| ENST00000295902.10:c.2219C>T (PRICKLE2) | ENSP00000295902.6:p.Ser740Phe | |
| ENST00000564377.5:c.2387C>T (PRICKLE2) | ENSP00000455004.1:p.Ser796Phe | |
| NM_198859.3:c.2219C>T (PRICKLE2) | NP_942559.1:p.Ser740Phe | |
| NR_045697.1:n.2741G>A (PRICKLE2-AS1) | ||
| XM_011533432.1:c.2585C>T (PRICKLE2) | XP_011531734.1:p.Ser862Phe | |
| XM_011533433.1:c.2495C>T (PRICKLE2) | XP_011531735.1:p.Ser832Phe | |
| XM_011533434.1:c.2477C>T (PRICKLE2) | XP_011531736.1:p.Ser826Phe | |
| XM_011533435.1:c.2387C>T (PRICKLE2) | XP_011531737.1:p.Ser796Phe | |
| XM_011533436.1:c.2309C>T (PRICKLE2) | XP_011531738.1:p.Ser770Phe | |
| XM_011533437.1:c.2309C>T (PRICKLE2) | XP_011531739.1:p.Ser770Phe | |
| XM_011533438.1:c.1958C>T (PRICKLE2) | XP_011531740.1:p.Ser653Phe | |
| XM_011533439.1:c.2309C>T (PRICKLE2) | XP_011531741.1:p.Ser770Phe | |
| XM_011533440.1:c.*475C>T (PRICKLE2) | XP_011531742.1:n.*475C>T | |
| XM_011533432.2:c.2585C>T (PRICKLE2) | XP_011531734.1:p.Ser862Phe | |
| XM_011533433.2:c.2495C>T (PRICKLE2) | XP_011531735.1:p.Ser832Phe | |
| XM_011533434.2:c.2477C>T (PRICKLE2) | XP_011531736.1:p.Ser826Phe | |
| XM_011533435.2:c.2387C>T (PRICKLE2) | XP_011531737.1:p.Ser796Phe | |
| XM_011533436.3:c.2309C>T (PRICKLE2) | XP_011531738.1:p.Ser770Phe | |
| XM_011533437.2:c.2309C>T (PRICKLE2) | XP_011531739.1:p.Ser770Phe | |
| XM_011533438.2:c.1958C>T (PRICKLE2) | XP_011531740.1:p.Ser653Phe | |
| XM_011533440.2:c.*475C>T (PRICKLE2) | XP_011531742.1:n.*475C>T | |
| XM_017005798.1:c.2219C>T (PRICKLE2) | XP_016861287.1:p.Ser740Phe | |
| XM_017005799.1:c.1847C>T (PRICKLE2) | XP_016861288.1:p.Ser616Phe | |
| NM_198859.4:c.2219C>T (PRICKLE2) MANE Select | NP_942559.1:p.Ser740Phe | |
| NM_001370528.1:c.2219C>T (PRICKLE2) | NP_001357457.1:p.Ser740Phe |