Linked Data
ClinVar Variation Id:
281799
dbSNP Id:
rs200220646
ExAC:
3:64085159 C / A
gnomAD v2:
3-64085159-C-A
gnomAD v3:
3-64099483-C-A
gnomAD v4:
3-64099483-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64099483C>A , CM000665.2:g.64099483C>A | GRCh38 |
| NC_000003.11:g.64085159C>A , CM000665.1:g.64085159C>A | GRCh37 |
| NC_000003.10:g.64060199C>A | NCBI36 |
| NG_031930.1:g.130973G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295902.11:c.2271G>T (PRICKLE2) | ENSP00000295902.7:p.Leu757= | |
| ENST00000564377.6:c.2103G>T (PRICKLE2) | ENSP00000455004.2:p.Leu701= | |
| ENST00000638394.2:c.2103G>T (PRICKLE2) MANE Select | ENSP00000492363.1:p.Leu701= | |
| ENST00000638436.1:n.704G>T (PRICKLE2) | ||
| ENST00000640303.1:n.2742G>T (PRICKLE2) | ||
| ENST00000295902.10:c.2103G>T (PRICKLE2) | ENSP00000295902.6:p.Leu701= | |
| ENST00000564377.5:c.2271G>T (PRICKLE2) | ENSP00000455004.1:p.Leu757= | |
| NM_198859.3:c.2103G>T (PRICKLE2) | NP_942559.1:p.Leu701= | |
| NR_045697.1:n.2857C>A (PRICKLE2-AS1) | ||
| XM_011533432.1:c.2469G>T (PRICKLE2) | XP_011531734.1:p.Leu823= | |
| XM_011533433.1:c.2379G>T (PRICKLE2) | XP_011531735.1:p.Leu793= | |
| XM_011533434.1:c.2361G>T (PRICKLE2) | XP_011531736.1:p.Leu787= | |
| XM_011533435.1:c.2271G>T (PRICKLE2) | XP_011531737.1:p.Leu757= | |
| XM_011533436.1:c.2193G>T (PRICKLE2) | XP_011531738.1:p.Leu731= | |
| XM_011533437.1:c.2193G>T (PRICKLE2) | XP_011531739.1:p.Leu731= | |
| XM_011533438.1:c.1842G>T (PRICKLE2) | XP_011531740.1:p.Leu614= | |
| XM_011533439.1:c.2193G>T (PRICKLE2) | XP_011531741.1:p.Leu731= | |
| XM_011533440.1:c.*359G>T (PRICKLE2) | XP_011531742.1:n.*359G>T | |
| XM_011533432.2:c.2469G>T (PRICKLE2) | XP_011531734.1:p.Leu823= | |
| XM_011533433.2:c.2379G>T (PRICKLE2) | XP_011531735.1:p.Leu793= | |
| XM_011533434.2:c.2361G>T (PRICKLE2) | XP_011531736.1:p.Leu787= | |
| XM_011533435.2:c.2271G>T (PRICKLE2) | XP_011531737.1:p.Leu757= | |
| XM_011533436.3:c.2193G>T (PRICKLE2) | XP_011531738.1:p.Leu731= | |
| XM_011533437.2:c.2193G>T (PRICKLE2) | XP_011531739.1:p.Leu731= | |
| XM_011533438.2:c.1842G>T (PRICKLE2) | XP_011531740.1:p.Leu614= | |
| XM_011533440.2:c.*359G>T (PRICKLE2) | XP_011531742.1:n.*359G>T | |
| XM_017005798.1:c.2103G>T (PRICKLE2) | XP_016861287.1:p.Leu701= | |
| XM_017005799.1:c.1731G>T (PRICKLE2) | XP_016861288.1:p.Leu577= | |
| NM_198859.4:c.2103G>T (PRICKLE2) MANE Select | NP_942559.1:p.Leu701= | |
| NM_001370528.1:c.2103G>T (PRICKLE2) | NP_001357457.1:p.Leu701= |