Linked Data
ClinVar Variation Id:
198929
dbSNP Id:
rs367685080
ExAC:
3:64085300 C / T
gnomAD v2:
3-64085300-C-T
gnomAD v3:
3-64099624-C-T
gnomAD v4:
3-64099624-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64099624C>T , CM000665.2:g.64099624C>T | GRCh38 |
| NC_000003.11:g.64085300C>T , CM000665.1:g.64085300C>T | GRCh37 |
| NC_000003.10:g.64060340C>T | NCBI36 |
| NG_031930.1:g.130832G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295902.11:c.2130G>A (PRICKLE2) | ENSP00000295902.7:p.Leu710= | |
| ENST00000564377.6:c.1962G>A (PRICKLE2) | ENSP00000455004.2:p.Leu654= | |
| ENST00000638394.2:c.1962G>A (PRICKLE2) MANE Select | ENSP00000492363.1:p.Leu654= | |
| ENST00000638436.1:n.563G>A (PRICKLE2) | ||
| ENST00000640303.1:n.2601G>A (PRICKLE2) | ||
| ENST00000295902.10:c.1962G>A (PRICKLE2) | ENSP00000295902.6:p.Leu654= | |
| ENST00000564377.5:c.2130G>A (PRICKLE2) | ENSP00000455004.1:p.Leu710= | |
| NM_198859.3:c.1962G>A (PRICKLE2) | NP_942559.1:p.Leu654= | |
| NR_045697.1:n.2998C>T (PRICKLE2-AS1) | ||
| XM_011533432.1:c.2328G>A (PRICKLE2) | XP_011531734.1:p.Leu776= | |
| XM_011533433.1:c.2238G>A (PRICKLE2) | XP_011531735.1:p.Leu746= | |
| XM_011533434.1:c.2220G>A (PRICKLE2) | XP_011531736.1:p.Leu740= | |
| XM_011533435.1:c.2130G>A (PRICKLE2) | XP_011531737.1:p.Leu710= | |
| XM_011533436.1:c.2052G>A (PRICKLE2) | XP_011531738.1:p.Leu684= | |
| XM_011533437.1:c.2052G>A (PRICKLE2) | XP_011531739.1:p.Leu684= | |
| XM_011533438.1:c.1701G>A (PRICKLE2) | XP_011531740.1:p.Leu567= | |
| XM_011533439.1:c.2052G>A (PRICKLE2) | XP_011531741.1:p.Leu684= | |
| XM_011533440.1:c.*218G>A (PRICKLE2) | XP_011531742.1:n.*218G>A | |
| XM_011533432.2:c.2328G>A (PRICKLE2) | XP_011531734.1:p.Leu776= | |
| XM_011533433.2:c.2238G>A (PRICKLE2) | XP_011531735.1:p.Leu746= | |
| XM_011533434.2:c.2220G>A (PRICKLE2) | XP_011531736.1:p.Leu740= | |
| XM_011533435.2:c.2130G>A (PRICKLE2) | XP_011531737.1:p.Leu710= | |
| XM_011533436.3:c.2052G>A (PRICKLE2) | XP_011531738.1:p.Leu684= | |
| XM_011533437.2:c.2052G>A (PRICKLE2) | XP_011531739.1:p.Leu684= | |
| XM_011533438.2:c.1701G>A (PRICKLE2) | XP_011531740.1:p.Leu567= | |
| XM_011533440.2:c.*218G>A (PRICKLE2) | XP_011531742.1:n.*218G>A | |
| XM_017005798.1:c.1962G>A (PRICKLE2) | XP_016861287.1:p.Leu654= | |
| XM_017005799.1:c.1590G>A (PRICKLE2) | XP_016861288.1:p.Leu530= | |
| NM_198859.4:c.1962G>A (PRICKLE2) MANE Select | NP_942559.1:p.Leu654= | |
| NM_001370528.1:c.1962G>A (PRICKLE2) | NP_001357457.1:p.Leu654= |