Revel Score:
ENST00000256190 (MANE Select)
0.878
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002866 (NFE)
Genomes Max Group AF
0.00027988 (NFE)
Exomes Max Group AF
0.00028137 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9795879G>A , CM000673.2:g.9795879G>A | GRCh38 |
| NC_000011.9:g.9817426G>A , CM000673.1:g.9817426G>A | GRCh37 |
| NC_000011.8:g.9774002G>A | NCBI36 |
| NG_008074.1:g.503329C>T , LRG_267:g.503329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1006C>T (SBF2) | ||
| ENST00000532095.2:n.1058C>T (SBF2) | ||
| ENST00000675281.2:c.4597C>T (SBF2) | ENSP00000502491.1:p.Arg1533Cys | |
| ENST00000676324.2:c.*830C>T (SBF2) | ENSP00000502578.1:n.*830C>T | |
| ENST00000676387.2:c.4579C>T (SBF2) | ENSP00000502779.1:p.Arg1527Cys | |
| ENST00000688344.1:c.4129C>T (SBF2) | ENSP00000509987.1:p.Arg1377Cys | |
| ENST00000689128.1:c.4618C>T (SBF2) | ENSP00000509587.1:p.Arg1540Cys | |
| ENST00000689258.1:c.4459C>T (SBF2) | ENSP00000510475.1:p.Arg1487Cys | |
| ENST00000689342.1:c.688C>T (SBF2) | ||
| ENST00000689356.1:n.1693C>T (SBF2) | ||
| ENST00000689597.1:c.3226C>T (SBF2) | ENSP00000510781.1:p.Arg1076Cys | |
| ENST00000689940.1:c.4516C>T (SBF2) | ENSP00000508452.1:p.Arg1506Cys | |
| ENST00000690944.1:c.651-5196C>T (SBF2) | ||
| ENST00000691616.1:n.998C>T (SBF2) | ||
| ENST00000692716.1:c.4393C>T (SBF2) | ENSP00000509545.1:p.Arg1465Cys | |
| ENST00000693541.1:n.1441C>T (SBF2) | ||
| ENST00000256190.13:c.4522C>T (SBF2) MANE Select | ENSP00000256190.8:p.Arg1508Cys | |
| ENST00000675281.1:c.4597C>T (SBF2) | ENSP00000502491.1:p.Arg1533Cys | |
| ENST00000676324.1:c.*830C>T (SBF2) | ENSP00000502578.1:n.*830C>T | |
| ENST00000676387.1:c.4579C>T (SBF2) | ENSP00000502779.1:p.Arg1527Cys | |
| ENST00000256190.12:c.4522C>T (SBF2) | ENSP00000256190.8:p.Arg1508Cys | |
| ENST00000617179.4:c.4381C>T (SBF2) | ENSP00000482806.1:p.Arg1461Cys | |
| NM_030962.3:c.4522C>T , LRG_267t1:c.4522C>T (SBF2) | NP_112224.1:p.Arg1508Cys | |
| NR_036485.1:n.212-11969G>A (SBF2-AS1) | ||
| XM_005253154.3:c.4618C>T (SBF2) | XP_005253211.1:p.Arg1540Cys | |
| XM_005253155.3:c.4489C>T (SBF2) | XP_005253212.1:p.Arg1497Cys | |
| XM_011520394.1:c.4504C>T (SBF2) | XP_011518696.1:p.Arg1502Cys | |
| XM_005253154.5:c.4618C>T (SBF2) | XP_005253211.1:p.Arg1540Cys | |
| XM_005253155.5:c.4489C>T (SBF2) | XP_005253212.1:p.Arg1497Cys | |
| XM_011520394.3:c.4504C>T (SBF2) | XP_011518696.1:p.Arg1502Cys | |
| XM_017018372.2:c.4480C>T (SBF2) | XP_016873861.1:p.Arg1494Cys | |
| XM_017018373.2:c.4480C>T (SBF2) | XP_016873862.1:p.Arg1494Cys | |
| XM_017018374.2:c.4393C>T (SBF2) | XP_016873863.1:p.Arg1465Cys | |
| XM_017018375.2:c.4381C>T (SBF2) | XP_016873864.1:p.Arg1461Cys | |
| XR_001747994.2:n.4678-5196C>T (SBF2) | ||
| NM_001386339.1:c.4618C>T (SBF2) | NP_001373268.1:p.Arg1540Cys | |
| NM_001386342.1:c.4393C>T (SBF2) | NP_001373271.1:p.Arg1465Cys | |
| NM_030962.4:c.4522C>T (SBF2) MANE Select | NP_112224.1:p.Arg1508Cys |