Linked Data
ClinVar Variation Id:
840713
dbSNP Id:
rs776642521
ExAC:
11:9806829 A / G
gnomAD v2:
11-9806829-A-G
gnomAD v3:
11-9785282-A-G
gnomAD v4:
11-9785282-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9785282A>G , CM000673.2:g.9785282A>G | GRCh38 |
| NC_000011.9:g.9806829A>G , CM000673.1:g.9806829A>G | GRCh37 |
| NC_000011.8:g.9763405A>G | NCBI36 |
| NG_008074.1:g.513926T>C , LRG_267:g.513926T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1558T>C (SBF2) | ||
| ENST00000529587.2:n.68T>C (SBF2) | ||
| ENST00000532095.2:n.1610T>C (SBF2) | ||
| ENST00000675281.2:c.5149T>C (SBF2) | ENSP00000502491.1:p.Ser1717Pro | |
| ENST00000676324.2:c.*1382T>C (SBF2) | ENSP00000502578.1:n.*1382T>C | |
| ENST00000676387.2:c.5131T>C (SBF2) | ENSP00000502779.1:p.Ser1711Pro | |
| ENST00000688344.1:c.4681T>C (SBF2) | ENSP00000509987.1:p.Ser1561Pro | |
| ENST00000689128.1:c.5170T>C (SBF2) | ENSP00000509587.1:p.Ser1724Pro | |
| ENST00000689258.1:c.5011T>C (SBF2) | ENSP00000510475.1:p.Ser1671Pro | |
| ENST00000689342.1:c.1240T>C (SBF2) | ||
| ENST00000689356.1:n.2245T>C (SBF2) | ||
| ENST00000689597.1:c.3778T>C (SBF2) | ENSP00000510781.1:p.Ser1260Pro | |
| ENST00000689940.1:c.5068T>C (SBF2) | ENSP00000508452.1:p.Ser1690Pro | |
| ENST00000690944.1:c.1154T>C (SBF2) | ||
| ENST00000691616.1:n.1550T>C (SBF2) | ||
| ENST00000692716.1:c.4945T>C (SBF2) | ENSP00000509545.1:p.Ser1649Pro | |
| ENST00000693541.1:n.1993T>C (SBF2) | ||
| ENST00000256190.13:c.5074T>C (SBF2) MANE Select | ENSP00000256190.8:p.Ser1692Pro | |
| ENST00000675281.1:c.5149T>C (SBF2) | ENSP00000502491.1:p.Ser1717Pro | |
| ENST00000676324.1:c.*1382T>C (SBF2) | ENSP00000502578.1:n.*1382T>C | |
| ENST00000676387.1:c.5131T>C (SBF2) | ENSP00000502779.1:p.Ser1711Pro | |
| ENST00000256190.12:c.5074T>C (SBF2) | ENSP00000256190.8:p.Ser1692Pro | |
| ENST00000525040.5:n.377T>C (SBF2) | ||
| ENST00000529587.1:n.68T>C (SBF2) | ||
| ENST00000532095.1:c.238T>C (SBF2) | ENSP00000434620.1:p.Ser80Pro | |
| ENST00000617179.4:c.4933T>C (SBF2) | ENSP00000482806.1:p.Ser1645Pro | |
| NM_030962.3:c.5074T>C , LRG_267t1:c.5074T>C (SBF2) | NP_112224.1:p.Ser1692Pro | |
| NR_036485.1:n.212-22566A>G (SBF2-AS1) | ||
| XM_005253154.3:c.5170T>C (SBF2) | XP_005253211.1:p.Ser1724Pro | |
| XM_005253155.3:c.5041T>C (SBF2) | XP_005253212.1:p.Ser1681Pro | |
| XM_011520394.1:c.5056T>C (SBF2) | XP_011518696.1:p.Ser1686Pro | |
| XR_931024.1:n.455+506A>G | ||
| XR_931025.1:n.270+2173A>G | ||
| XM_005253154.5:c.5170T>C (SBF2) | XP_005253211.1:p.Ser1724Pro | |
| XM_005253155.5:c.5041T>C (SBF2) | XP_005253212.1:p.Ser1681Pro | |
| XM_011520394.3:c.5056T>C (SBF2) | XP_011518696.1:p.Ser1686Pro | |
| XM_017018372.2:c.5032T>C (SBF2) | XP_016873861.1:p.Ser1678Pro | |
| XM_017018373.2:c.5032T>C (SBF2) | XP_016873862.1:p.Ser1678Pro | |
| XM_017018374.2:c.4945T>C (SBF2) | XP_016873863.1:p.Ser1649Pro | |
| XM_017018375.2:c.4933T>C (SBF2) | XP_016873864.1:p.Ser1645Pro | |
| XR_001747994.2:n.5181T>C (SBF2) | ||
| NM_001386339.1:c.5170T>C (SBF2) | NP_001373268.1:p.Ser1724Pro | |
| NM_001386342.1:c.4945T>C (SBF2) | NP_001373271.1:p.Ser1649Pro | |
| NM_030962.4:c.5074T>C (SBF2) MANE Select | NP_112224.1:p.Ser1692Pro |