Linked Data
ClinVar Variation Id:
346455
ClinVar RCV Id:
RCV000326703
dbSNP Id:
rs879297640
gnomAD v2:
3-64083232-A-G
gnomAD v3:
3-64097556-A-G
gnomAD v4:
3-64097556-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64097556A>G , CM000665.2:g.64097556A>G | GRCh38 |
| NC_000003.11:g.64083232A>G , CM000665.1:g.64083232A>G | GRCh37 |
| NC_000003.10:g.64058272A>G | NCBI36 |
| NG_031930.1:g.132900T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295902.11:c.*1495T>C (PRICKLE2) | ENSP00000295902.7:n.*1495T>C | |
| ENST00000564377.6:c.*1495T>C (PRICKLE2) | ENSP00000455004.2:n.*1495T>C | |
| ENST00000638394.2:c.*1495T>C (PRICKLE2) MANE Select | ENSP00000492363.1:n.*1495T>C | |
| ENST00000638436.1:n.2631T>C (PRICKLE2) | ||
| ENST00000295902.10:c.*1495T>C (PRICKLE2) | ENSP00000295902.6:n.*1495T>C | |
| ENST00000564377.5:c.*1495T>C (PRICKLE2) | ENSP00000455004.1:n.*1495T>C | |
| NM_198859.3:c.*1495T>C (PRICKLE2) | NP_942559.1:n.*1495T>C | |
| NR_045697.1:n.930A>G (PRICKLE2-AS1) | ||
| XM_011533432.1:c.*1495T>C (PRICKLE2) | XP_011531734.1:n.*1495T>C | |
| XM_011533433.1:c.*1495T>C (PRICKLE2) | XP_011531735.1:n.*1495T>C | |
| XM_011533434.1:c.*1495T>C (PRICKLE2) | XP_011531736.1:n.*1495T>C | |
| XM_011533435.1:c.*1495T>C (PRICKLE2) | XP_011531737.1:n.*1495T>C | |
| XM_011533436.1:c.*1495T>C (PRICKLE2) | XP_011531738.1:n.*1495T>C | |
| XM_011533437.1:c.*1495T>C (PRICKLE2) | XP_011531739.1:n.*1495T>C | |
| XM_011533438.1:c.*1495T>C (PRICKLE2) | XP_011531740.1:n.*1495T>C | |
| XM_011533439.1:c.*1495T>C (PRICKLE2) | XP_011531741.1:n.*1495T>C | |
| XM_011533440.1:c.*2286T>C (PRICKLE2) | XP_011531742.1:n.*2286T>C | |
| XM_011533432.2:c.*1495T>C (PRICKLE2) | XP_011531734.1:n.*1495T>C | |
| XM_011533433.2:c.*1495T>C (PRICKLE2) | XP_011531735.1:n.*1495T>C | |
| XM_011533434.2:c.*1495T>C (PRICKLE2) | XP_011531736.1:n.*1495T>C | |
| XM_011533435.2:c.*1495T>C (PRICKLE2) | XP_011531737.1:n.*1495T>C | |
| XM_011533436.3:c.*1495T>C (PRICKLE2) | XP_011531738.1:n.*1495T>C | |
| XM_011533437.2:c.*1495T>C (PRICKLE2) | XP_011531739.1:n.*1495T>C | |
| XM_011533438.2:c.*1495T>C (PRICKLE2) | XP_011531740.1:n.*1495T>C | |
| XM_011533440.2:c.*2286T>C (PRICKLE2) | XP_011531742.1:n.*2286T>C | |
| XM_017005798.1:c.*1495T>C (PRICKLE2) | XP_016861287.1:n.*1495T>C | |
| XM_017005799.1:c.*1495T>C (PRICKLE2) | XP_016861288.1:n.*1495T>C | |
| NM_198859.4:c.*1495T>C (PRICKLE2) MANE Select | NP_942559.1:n.*1495T>C | |
| NM_001370528.1:c.*1495T>C (PRICKLE2) | NP_001357457.1:n.*1495T>C |