Linked Data
ClinVar Variation Id:
220725
ClinVar RCV Id:
RCV000206356
RCV000268529
RCV001173798
RCV001000985
RCV002227459
RCV003967553
RCV002336565
dbSNP Id:
rs146230559
ExAC:
11:9806845 T / A
gnomAD v2:
11-9806845-T-A
gnomAD v3:
11-9785298-T-A
gnomAD v4:
11-9785298-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9785298T>A , CM000673.2:g.9785298T>A | GRCh38 |
| NC_000011.9:g.9806845T>A , CM000673.1:g.9806845T>A | GRCh37 |
| NC_000011.8:g.9763421T>A | NCBI36 |
| NG_008074.1:g.513910A>T , LRG_267:g.513910A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1542A>T (SBF2) | ||
| ENST00000529587.2:n.52A>T (SBF2) | ||
| ENST00000532095.2:n.1594A>T (SBF2) | ||
| ENST00000675281.2:c.5133A>T (SBF2) | ENSP00000502491.1:p.Arg1711Ser | |
| ENST00000676324.2:c.*1366A>T (SBF2) | ENSP00000502578.1:n.*1366A>T | |
| ENST00000676387.2:c.5115A>T (SBF2) | ENSP00000502779.1:p.Arg1705Ser | |
| ENST00000688344.1:c.4665A>T (SBF2) | ENSP00000509987.1:p.Arg1555Ser | |
| ENST00000689128.1:c.5154A>T (SBF2) | ENSP00000509587.1:p.Arg1718Ser | |
| ENST00000689258.1:c.4995A>T (SBF2) | ENSP00000510475.1:p.Arg1665Ser | |
| ENST00000689342.1:c.1224A>T (SBF2) | ||
| ENST00000689356.1:n.2229A>T (SBF2) | ||
| ENST00000689597.1:c.3762A>T (SBF2) | ENSP00000510781.1:p.Arg1254Ser | |
| ENST00000689940.1:c.5052A>T (SBF2) | ENSP00000508452.1:p.Arg1684Ser | |
| ENST00000690944.1:c.1138A>T (SBF2) | ||
| ENST00000691616.1:n.1534A>T (SBF2) | ||
| ENST00000692716.1:c.4929A>T (SBF2) | ENSP00000509545.1:p.Arg1643Ser | |
| ENST00000693541.1:n.1977A>T (SBF2) | ||
| ENST00000256190.13:c.5058A>T (SBF2) MANE Select | ENSP00000256190.8:p.Arg1686Ser | |
| ENST00000675281.1:c.5133A>T (SBF2) | ENSP00000502491.1:p.Arg1711Ser | |
| ENST00000676324.1:c.*1366A>T (SBF2) | ENSP00000502578.1:n.*1366A>T | |
| ENST00000676387.1:c.5115A>T (SBF2) | ENSP00000502779.1:p.Arg1705Ser | |
| ENST00000256190.12:c.5058A>T (SBF2) | ENSP00000256190.8:p.Arg1686Ser | |
| ENST00000525040.5:n.361A>T (SBF2) | ||
| ENST00000529587.1:n.52A>T (SBF2) | ||
| ENST00000532095.1:c.222A>T (SBF2) | ENSP00000434620.1:p.Arg74Ser | |
| ENST00000617179.4:c.4917A>T (SBF2) | ENSP00000482806.1:p.Arg1639Ser | |
| NM_030962.3:c.5058A>T , LRG_267t1:c.5058A>T (SBF2) | NP_112224.1:p.Arg1686Ser | |
| NR_036485.1:n.212-22550T>A (SBF2-AS1) | ||
| XM_005253154.3:c.5154A>T (SBF2) | XP_005253211.1:p.Arg1718Ser | |
| XM_005253155.3:c.5025A>T (SBF2) | XP_005253212.1:p.Arg1675Ser | |
| XM_011520394.1:c.5040A>T (SBF2) | XP_011518696.1:p.Arg1680Ser | |
| XR_931024.1:n.455+522T>A | ||
| XR_931025.1:n.270+2189T>A | ||
| XM_005253154.5:c.5154A>T (SBF2) | XP_005253211.1:p.Arg1718Ser | |
| XM_005253155.5:c.5025A>T (SBF2) | XP_005253212.1:p.Arg1675Ser | |
| XM_011520394.3:c.5040A>T (SBF2) | XP_011518696.1:p.Arg1680Ser | |
| XM_017018372.2:c.5016A>T (SBF2) | XP_016873861.1:p.Arg1672Ser | |
| XM_017018373.2:c.5016A>T (SBF2) | XP_016873862.1:p.Arg1672Ser | |
| XM_017018374.2:c.4929A>T (SBF2) | XP_016873863.1:p.Arg1643Ser | |
| XM_017018375.2:c.4917A>T (SBF2) | XP_016873864.1:p.Arg1639Ser | |
| XR_001747994.2:n.5165A>T (SBF2) | ||
| NM_001386339.1:c.5154A>T (SBF2) | NP_001373268.1:p.Arg1718Ser | |
| NM_001386342.1:c.4929A>T (SBF2) | NP_001373271.1:p.Arg1643Ser | |
| NM_030962.4:c.5058A>T (SBF2) MANE Select | NP_112224.1:p.Arg1686Ser |