Linked Data
ClinVar Variation Id:
1039338
ClinVar RCV Id:
RCV001342793
dbSNP Id:
rs1852006389
gnomAD v4:
11-9781523-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9781523T>C , CM000673.2:g.9781523T>C | GRCh38 |
| NC_000011.9:g.9803070T>C , CM000673.1:g.9803070T>C | GRCh37 |
| NC_000011.8:g.9759646T>C | NCBI36 |
| NG_008074.1:g.517685A>G , LRG_267:g.517685A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1919A>G (SBF2) | ||
| ENST00000675281.2:c.5510A>G (SBF2) | ENSP00000502491.1:p.Asp1837Gly | |
| ENST00000676324.2:c.*1743A>G (SBF2) | ENSP00000502578.1:n.*1743A>G | |
| ENST00000676387.2:c.5492A>G (SBF2) | ENSP00000502779.1:p.Asp1831Gly | |
| ENST00000688344.1:c.5042A>G (SBF2) | ENSP00000509987.1:p.Asp1681Gly | |
| ENST00000689128.1:c.5531A>G (SBF2) | ENSP00000509587.1:p.Asp1844Gly | |
| ENST00000689258.1:c.5372A>G (SBF2) | ENSP00000510475.1:p.Asp1791Gly | |
| ENST00000689342.1:c.1601A>G (SBF2) | ||
| ENST00000689356.1:n.2606A>G (SBF2) | ||
| ENST00000689940.1:c.5429A>G (SBF2) | ENSP00000508452.1:p.Asp1810Gly | |
| ENST00000690437.1:n.1384A>G (SBF2) | ||
| ENST00000690944.1:c.1515A>G (SBF2) | ||
| ENST00000691616.1:n.1911A>G (SBF2) | ||
| ENST00000692716.1:c.5306A>G (SBF2) | ENSP00000509545.1:p.Asp1769Gly | |
| ENST00000693541.1:n.2354A>G (SBF2) | ||
| ENST00000256190.13:c.5435A>G (SBF2) MANE Select | ENSP00000256190.8:p.Asp1812Gly | |
| ENST00000675281.1:c.5510A>G (SBF2) | ENSP00000502491.1:p.Asp1837Gly | |
| ENST00000676324.1:c.*1743A>G (SBF2) | ENSP00000502578.1:n.*1743A>G | |
| ENST00000676387.1:c.5492A>G (SBF2) | ENSP00000502779.1:p.Asp1831Gly | |
| ENST00000256190.12:c.5435A>G (SBF2) | ENSP00000256190.8:p.Asp1812Gly | |
| ENST00000525040.5:n.738A>G (SBF2) | ||
| ENST00000617179.4:c.5294A>G (SBF2) | ENSP00000482806.1:p.Asp1765Gly | |
| NM_030962.3:c.5435A>G , LRG_267t1:c.5435A>G (SBF2) | NP_112224.1:p.Asp1812Gly | |
| NR_036485.1:n.211+23020T>C (SBF2-AS1) | ||
| XM_005253154.3:c.5531A>G (SBF2) | XP_005253211.1:p.Asp1844Gly | |
| XM_005253155.3:c.5402A>G (SBF2) | XP_005253212.1:p.Asp1801Gly | |
| XM_011520394.1:c.5417A>G (SBF2) | XP_011518696.1:p.Asp1806Gly | |
| XR_931024.1:n.200+948T>C | ||
| XR_931025.1:n.200+948T>C | ||
| XM_005253154.5:c.5531A>G (SBF2) | XP_005253211.1:p.Asp1844Gly | |
| XM_005253155.5:c.5402A>G (SBF2) | XP_005253212.1:p.Asp1801Gly | |
| XM_011520394.3:c.5417A>G (SBF2) | XP_011518696.1:p.Asp1806Gly | |
| XM_017018372.2:c.5393A>G (SBF2) | XP_016873861.1:p.Asp1798Gly | |
| XM_017018373.2:c.5393A>G (SBF2) | XP_016873862.1:p.Asp1798Gly | |
| XM_017018374.2:c.5306A>G (SBF2) | XP_016873863.1:p.Asp1769Gly | |
| XM_017018375.2:c.5294A>G (SBF2) | XP_016873864.1:p.Asp1765Gly | |
| XR_001747994.2:n.5542A>G (SBF2) | ||
| XR_001748470.1:n.200+948T>C | ||
| XR_001748471.1:n.85+948T>C | ||
| NM_001386339.1:c.5531A>G (SBF2) | NP_001373268.1:p.Asp1844Gly | |
| NM_001386342.1:c.5306A>G (SBF2) | NP_001373271.1:p.Asp1769Gly | |
| NM_030962.4:c.5435A>G (SBF2) MANE Select | NP_112224.1:p.Asp1812Gly |