Linked Data
ClinVar Variation Id:
167532
dbSNP Id:
rs727504106
ExAC:
3:64184481 C / T
gnomAD v2:
3-64184481-C-T
gnomAD v3:
3-64198805-C-T
gnomAD v4:
3-64198805-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64198805C>T , CM000665.2:g.64198805C>T | GRCh38 |
| NC_000003.11:g.64184481C>T , CM000665.1:g.64184481C>T | GRCh37 |
| NC_000003.10:g.64159521C>T | NCBI36 |
| NG_031930.1:g.31651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295902.11:c.291G>A (PRICKLE2) | ENSP00000295902.7:p.Pro97= | |
| ENST00000485770.2:n.503G>A (PRICKLE2) | ||
| ENST00000498162.2:c.272G>A (PRICKLE2) | ||
| ENST00000564377.6:c.123G>A (PRICKLE2) | ENSP00000455004.2:p.Pro41= | |
| ENST00000638394.2:c.123G>A (PRICKLE2) MANE Select | ENSP00000492363.1:p.Pro41= | |
| ENST00000295902.10:c.123G>A (PRICKLE2) | ENSP00000295902.6:p.Pro41= | |
| ENST00000498162.1:c.123G>A (PRICKLE2) | ENSP00000419951.1:p.Pro41= | |
| ENST00000564377.5:c.291G>A (PRICKLE2) | ENSP00000455004.1:p.Pro97= | |
| ENST00000569824.1:c.399G>A (PRICKLE2) | ENSP00000456173.1:p.Pro133= | |
| NM_198859.3:c.123G>A (PRICKLE2) | NP_942559.1:p.Pro41= | |
| NR_046702.1:n.336C>T (PRICKLE2-AS3) | ||
| XM_011533432.1:c.399G>A (PRICKLE2) | XP_011531734.1:p.Pro133= | |
| XM_011533433.1:c.399G>A (PRICKLE2) | XP_011531735.1:p.Pro133= | |
| XM_011533434.1:c.291G>A (PRICKLE2) | XP_011531736.1:p.Pro97= | |
| XM_011533435.1:c.291G>A (PRICKLE2) | XP_011531737.1:p.Pro97= | |
| XM_011533436.1:c.123G>A (PRICKLE2) | XP_011531738.1:p.Pro41= | |
| XM_011533437.1:c.123G>A (PRICKLE2) | XP_011531739.1:p.Pro41= | |
| XM_011533439.1:c.123G>A (PRICKLE2) | XP_011531741.1:p.Pro41= | |
| XM_011533440.1:c.399G>A (PRICKLE2) | XP_011531742.1:p.Pro133= | |
| XM_011533432.2:c.399G>A (PRICKLE2) | XP_011531734.1:p.Pro133= | |
| XM_011533433.2:c.399G>A (PRICKLE2) | XP_011531735.1:p.Pro133= | |
| XM_011533434.2:c.291G>A (PRICKLE2) | XP_011531736.1:p.Pro97= | |
| XM_011533435.2:c.291G>A (PRICKLE2) | XP_011531737.1:p.Pro97= | |
| XM_011533436.3:c.123G>A (PRICKLE2) | XP_011531738.1:p.Pro41= | |
| XM_011533437.2:c.123G>A (PRICKLE2) | XP_011531739.1:p.Pro41= | |
| XM_011533440.2:c.399G>A (PRICKLE2) | XP_011531742.1:p.Pro133= | |
| XM_017005798.1:c.123G>A (PRICKLE2) | XP_016861287.1:p.Pro41= | |
| NM_198859.4:c.123G>A (PRICKLE2) MANE Select | NP_942559.1:p.Pro41= | |
| NM_001370528.1:c.123G>A (PRICKLE2) | NP_001357457.1:p.Pro41= |