Linked Data
ClinVar Variation Id:
383688
ClinVar RCV Id:
RCV000440809
RCV000456931
RCV001114389
RCV001173807
RCV001815388
RCV002339027
RCV003932612
dbSNP Id:
rs200784979
ExAC:
11:9809181 G / A
gnomAD v2:
11-9809181-G-A
gnomAD v3:
11-9787634-G-A
gnomAD v4:
11-9787634-G-A
COSMIC:
COSM2062101
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9787634G>A , CM000673.2:g.9787634G>A | GRCh38 |
| NC_000011.9:g.9809181G>A , CM000673.1:g.9809181G>A | GRCh37 |
| NC_000011.8:g.9765757G>A | NCBI36 |
| NG_008074.1:g.511574C>T , LRG_267:g.511574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1521C>T (SBF2) | ||
| ENST00000532095.2:n.1573C>T (SBF2) | ||
| ENST00000675281.2:c.5112C>T (SBF2) | ENSP00000502491.1:p.Arg1704= | |
| ENST00000676324.2:c.*1345C>T (SBF2) | ENSP00000502578.1:n.*1345C>T | |
| ENST00000676387.2:c.5094C>T (SBF2) | ENSP00000502779.1:p.Arg1698= | |
| ENST00000688344.1:c.4644C>T (SBF2) | ENSP00000509987.1:p.Arg1548= | |
| ENST00000689128.1:c.5133C>T (SBF2) | ENSP00000509587.1:p.Arg1711= | |
| ENST00000689258.1:c.4974C>T (SBF2) | ENSP00000510475.1:p.Arg1658= | |
| ENST00000689342.1:c.1203C>T (SBF2) | ||
| ENST00000689356.1:n.2208C>T (SBF2) | ||
| ENST00000689597.1:c.3741C>T (SBF2) | ENSP00000510781.1:p.Arg1247= | |
| ENST00000689940.1:c.5031C>T (SBF2) | ENSP00000508452.1:p.Arg1677= | |
| ENST00000690944.1:c.1117C>T (SBF2) | ||
| ENST00000691616.1:n.1513C>T (SBF2) | ||
| ENST00000692716.1:c.4908C>T (SBF2) | ENSP00000509545.1:p.Arg1636= | |
| ENST00000693541.1:n.1956C>T (SBF2) | ||
| ENST00000256190.13:c.5037C>T (SBF2) MANE Select | ENSP00000256190.8:p.Arg1679= | |
| ENST00000675281.1:c.5112C>T (SBF2) | ENSP00000502491.1:p.Arg1704= | |
| ENST00000676324.1:c.*1345C>T (SBF2) | ENSP00000502578.1:n.*1345C>T | |
| ENST00000676387.1:c.5094C>T (SBF2) | ENSP00000502779.1:p.Arg1698= | |
| ENST00000256190.12:c.5037C>T (SBF2) | ENSP00000256190.8:p.Arg1679= | |
| ENST00000525040.5:n.340C>T (SBF2) | ||
| ENST00000532095.1:c.201C>T (SBF2) | ENSP00000434620.1:p.Arg67= | |
| ENST00000617179.4:c.4896C>T (SBF2) | ENSP00000482806.1:p.Arg1632= | |
| NM_030962.3:c.5037C>T , LRG_267t1:c.5037C>T (SBF2) | NP_112224.1:p.Arg1679= | |
| NR_036485.1:n.212-20214G>A (SBF2-AS1) | ||
| XM_005253154.3:c.5133C>T (SBF2) | XP_005253211.1:p.Arg1711= | |
| XM_005253155.3:c.5004C>T (SBF2) | XP_005253212.1:p.Arg1668= | |
| XM_011520394.1:c.5019C>T (SBF2) | XP_011518696.1:p.Arg1673= | |
| XR_931024.1:n.455+2858G>A | ||
| XR_931025.1:n.271-3235G>A | ||
| XM_005253154.5:c.5133C>T (SBF2) | XP_005253211.1:p.Arg1711= | |
| XM_005253155.5:c.5004C>T (SBF2) | XP_005253212.1:p.Arg1668= | |
| XM_011520394.3:c.5019C>T (SBF2) | XP_011518696.1:p.Arg1673= | |
| XM_017018372.2:c.4995C>T (SBF2) | XP_016873861.1:p.Arg1665= | |
| XM_017018373.2:c.4995C>T (SBF2) | XP_016873862.1:p.Arg1665= | |
| XM_017018374.2:c.4908C>T (SBF2) | XP_016873863.1:p.Arg1636= | |
| XM_017018375.2:c.4896C>T (SBF2) | XP_016873864.1:p.Arg1632= | |
| XR_001747994.2:n.5144C>T (SBF2) | ||
| NM_001386339.1:c.5133C>T (SBF2) | NP_001373268.1:p.Arg1711= | |
| NM_001386342.1:c.4908C>T (SBF2) | NP_001373271.1:p.Arg1636= | |
| NM_030962.4:c.5037C>T (SBF2) MANE Select | NP_112224.1:p.Arg1679= |