Revel Score:
ENST00000380907 (MANE Select)
0.034
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01341079 (EAS)
Genomes Max Group AF
0.0162424 (EAS)
Exomes Max Group AF
0.01272722 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.656415C>G , CM000668.2:g.656415C>G | GRCh38 |
| NC_000006.11:g.656415C>G , CM000668.1:g.656415C>G | GRCh37 |
| NC_000006.10:g.601415C>G | NCBI36 |
| NG_047166.1:g.41727G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380907.3:c.530G>C (HUS1B) MANE Select | ENSP00000370293.2:p.Ser177Thr | |
| ENST00000230449.9:c.-43-18554G>C (EXOC2) MANE Select | ENSP00000230449.4:n.-43-18554G>C | |
| ENST00000230449.8:c.-43-18554G>C (EXOC2) | ENSP00000230449.4:n.-43-18554G>C | |
| ENST00000380907.2:c.530G>C (HUS1B) | ENSP00000370293.2:p.Ser177Thr | |
| ENST00000443083.5:c.-44+748G>C (EXOC2) | ENSP00000406400.1:n.-44+748G>C | |
| NM_018303.5:c.-43-18554G>C (EXOC2) | NP_060773.3:n.-43-18554G>C | |
| NM_148959.3:c.530G>C (HUS1B) | NP_683762.2:p.Ser177Thr | |
| NR_073064.1:n.285+748G>C (EXOC2) | ||
| XM_017011018.1:c.-43-18554G>C (EXOC2) | XP_016866507.1:n.-43-18554G>C | |
| XM_017011019.1:c.-43-18554G>C (EXOC2) | XP_016866508.1:n.-43-18554G>C | |
| XM_017011020.1:c.-44+748G>C (EXOC2) | XP_016866509.1:n.-44+748G>C | |
| XM_017011022.1:c.-43-18554G>C (EXOC2) | XP_016866511.1:n.-43-18554G>C | |
| XM_017011023.1:c.-43-18554G>C (EXOC2) | XP_016866512.1:n.-43-18554G>C | |
| XM_017011024.1:c.-43-18554G>C (EXOC2) | XP_016866513.1:n.-43-18554G>C | |
| XM_017011025.1:c.-43-18554G>C (EXOC2) | XP_016866514.1:n.-43-18554G>C | |
| XM_017011026.1:c.-43-18554G>C (EXOC2) | XP_016866515.1:n.-43-18554G>C | |
| NM_018303.6:c.-43-18554G>C (EXOC2) MANE Select | NP_060773.3:n.-43-18554G>C | |
| NM_148959.4:c.530G>C (HUS1B) MANE Select | NP_683762.2:p.Ser177Thr | |
| NR_073064.2:n.283+748G>C (EXOC2) |