Linked Data
ClinVar Variation Id:
198931
dbSNP Id:
rs148689951
ExAC:
3:64085071 T / C
gnomAD v2:
3-64085071-T-C
gnomAD v3:
3-64099395-T-C
gnomAD v4:
3-64099395-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64099395T>C , CM000665.2:g.64099395T>C | GRCh38 |
| NC_000003.11:g.64085071T>C , CM000665.1:g.64085071T>C | GRCh37 |
| NC_000003.10:g.64060111T>C | NCBI36 |
| NG_031930.1:g.131061A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295902.11:c.2359A>G (PRICKLE2) | ENSP00000295902.7:p.Ser787Gly | |
| ENST00000564377.6:c.2191A>G (PRICKLE2) | ENSP00000455004.2:p.Ser731Gly | |
| ENST00000638394.2:c.2191A>G (PRICKLE2) MANE Select | ENSP00000492363.1:p.Ser731Gly | |
| ENST00000638436.1:n.792A>G (PRICKLE2) | ||
| ENST00000640303.1:n.2830A>G (PRICKLE2) | ||
| ENST00000295902.10:c.2191A>G (PRICKLE2) | ENSP00000295902.6:p.Ser731Gly | |
| ENST00000564377.5:c.2359A>G (PRICKLE2) | ENSP00000455004.1:p.Ser787Gly | |
| NM_198859.3:c.2191A>G (PRICKLE2) | NP_942559.1:p.Ser731Gly | |
| NR_045697.1:n.2769T>C (PRICKLE2-AS1) | ||
| XM_011533432.1:c.2557A>G (PRICKLE2) | XP_011531734.1:p.Ser853Gly | |
| XM_011533433.1:c.2467A>G (PRICKLE2) | XP_011531735.1:p.Ser823Gly | |
| XM_011533434.1:c.2449A>G (PRICKLE2) | XP_011531736.1:p.Ser817Gly | |
| XM_011533435.1:c.2359A>G (PRICKLE2) | XP_011531737.1:p.Ser787Gly | |
| XM_011533436.1:c.2281A>G (PRICKLE2) | XP_011531738.1:p.Ser761Gly | |
| XM_011533437.1:c.2281A>G (PRICKLE2) | XP_011531739.1:p.Ser761Gly | |
| XM_011533438.1:c.1930A>G (PRICKLE2) | XP_011531740.1:p.Ser644Gly | |
| XM_011533439.1:c.2281A>G (PRICKLE2) | XP_011531741.1:p.Ser761Gly | |
| XM_011533440.1:c.*447A>G (PRICKLE2) | XP_011531742.1:n.*447A>G | |
| XM_011533432.2:c.2557A>G (PRICKLE2) | XP_011531734.1:p.Ser853Gly | |
| XM_011533433.2:c.2467A>G (PRICKLE2) | XP_011531735.1:p.Ser823Gly | |
| XM_011533434.2:c.2449A>G (PRICKLE2) | XP_011531736.1:p.Ser817Gly | |
| XM_011533435.2:c.2359A>G (PRICKLE2) | XP_011531737.1:p.Ser787Gly | |
| XM_011533436.3:c.2281A>G (PRICKLE2) | XP_011531738.1:p.Ser761Gly | |
| XM_011533437.2:c.2281A>G (PRICKLE2) | XP_011531739.1:p.Ser761Gly | |
| XM_011533438.2:c.1930A>G (PRICKLE2) | XP_011531740.1:p.Ser644Gly | |
| XM_011533440.2:c.*447A>G (PRICKLE2) | XP_011531742.1:n.*447A>G | |
| XM_017005798.1:c.2191A>G (PRICKLE2) | XP_016861287.1:p.Ser731Gly | |
| XM_017005799.1:c.1819A>G (PRICKLE2) | XP_016861288.1:p.Ser607Gly | |
| NM_198859.4:c.2191A>G (PRICKLE2) MANE Select | NP_942559.1:p.Ser731Gly | |
| NM_001370528.1:c.2191A>G (PRICKLE2) | NP_001357457.1:p.Ser731Gly |