Revel Score:
ENST00000336418 (MANE Select)
0.223
ENST00000398333
0.223
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011207 (AFR)
Genomes Max Group AF
0.00016666 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89837648C>G , CM000677.2:g.89837648C>G | GRCh38 |
| NC_000015.9:g.90380880C>G , CM000677.1:g.90380880C>G | GRCh37 |
| NC_000015.8:g.88181884C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336418.9:c.420G>C (AP3S2) MANE Select | ENSP00000338777.4:p.Gln140His | |
| ENST00000336418.8:c.420G>C (AP3S2) | ENSP00000338777.4:p.Gln140His | |
| ENST00000398333.7:c.1023G>C (ARPIN-AP3S2) | ENSP00000381377.3:p.Gln341His | |
| ENST00000423566.6:c.*164G>C (AP3S2) | ENSP00000394170.2:n.*164G>C | |
| ENST00000557999.5:c.*289G>C (AP3S2) | ENSP00000452862.1:n.*289G>C | |
| ENST00000558011.5:c.456G>C (AP3S2) | ENSP00000453223.1:p.Gln152His | |
| ENST00000558186.1:n.371G>C (AP3S2) | ||
| ENST00000558648.5:c.531G>C (ARPIN-AP3S2) | ENSP00000453100.1:p.Gln177His | |
| ENST00000558806.5:c.*305G>C (AP3S2) | ENSP00000454027.1:n.*305G>C | |
| ENST00000558926.1:n.307G>C (AP3S2) | ||
| ENST00000558999.5:c.*164G>C (AP3S2) | ENSP00000453380.1:n.*164G>C | |
| ENST00000559162.5:n.280G>C (AP3S2) | ||
| ENST00000559629.1:c.528G>C (ARPIN-AP3S2) | ENSP00000453637.1:p.Gln176His | |
| ENST00000560771.5:n.629G>C (AP3S2) | ||
| ENST00000560940.5:c.420G>C (AP3S2) | ENSP00000453852.1:p.Gln140His | |
| ENST00000561410.5:n.490G>C (AP3S2) | ||
| NM_001199058.1:c.1023G>C (ARPIN-AP3S2) | NP_001185987.1:p.Gln341His | |
| NM_005829.4:c.420G>C (AP3S2) | NP_005820.1:p.Gln140His | |
| NR_023361.1:n.975G>C (AP3S2) | ||
| NR_037582.1:n.852G>C (AP3S2) | ||
| NM_005829.5:c.420G>C (AP3S2) MANE Select | NP_005820.1:p.Gln140His | |
| NM_001199058.2:c.1023G>C (ARPIN-AP3S2) | NP_001185987.1:p.Gln341His | |
| NR_023361.2:n.584G>C (AP3S2) | ||
| NR_037582.2:n.461G>C (AP3S2) |