Linked Data
ClinVar Variation Id:
645714
ClinVar RCV Id:
RCV000799856
dbSNP Id:
rs1411871638
gnomAD v2:
11-9806703-T-G
gnomAD v4:
11-9785156-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9785156T>G , CM000673.2:g.9785156T>G | GRCh38 |
| NC_000011.9:g.9806703T>G , CM000673.1:g.9806703T>G | GRCh37 |
| NC_000011.8:g.9763279T>G | NCBI36 |
| NG_008074.1:g.514052A>C , LRG_267:g.514052A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1684A>C (SBF2) | ||
| ENST00000529587.2:n.194A>C (SBF2) | ||
| ENST00000532095.2:n.1736A>C (SBF2) | ||
| ENST00000675281.2:c.5275A>C (SBF2) | ENSP00000502491.1:p.Ser1759Arg | |
| ENST00000676324.2:c.*1508A>C (SBF2) | ENSP00000502578.1:n.*1508A>C | |
| ENST00000676387.2:c.5257A>C (SBF2) | ENSP00000502779.1:p.Ser1753Arg | |
| ENST00000688344.1:c.4807A>C (SBF2) | ENSP00000509987.1:p.Ser1603Arg | |
| ENST00000689128.1:c.5296A>C (SBF2) | ENSP00000509587.1:p.Ser1766Arg | |
| ENST00000689258.1:c.5137A>C (SBF2) | ENSP00000510475.1:p.Ser1713Arg | |
| ENST00000689342.1:c.1366A>C (SBF2) | ||
| ENST00000689356.1:n.2371A>C (SBF2) | ||
| ENST00000689597.1:c.3904A>C (SBF2) | ENSP00000510781.1:p.Ser1302Arg | |
| ENST00000689940.1:c.5194A>C (SBF2) | ENSP00000508452.1:p.Ser1732Arg | |
| ENST00000690944.1:c.1280A>C (SBF2) | ||
| ENST00000691616.1:n.1676A>C (SBF2) | ||
| ENST00000692716.1:c.5071A>C (SBF2) | ENSP00000509545.1:p.Ser1691Arg | |
| ENST00000693541.1:n.2119A>C (SBF2) | ||
| ENST00000256190.13:c.5200A>C (SBF2) MANE Select | ENSP00000256190.8:p.Ser1734Arg | |
| ENST00000675281.1:c.5275A>C (SBF2) | ENSP00000502491.1:p.Ser1759Arg | |
| ENST00000676324.1:c.*1508A>C (SBF2) | ENSP00000502578.1:n.*1508A>C | |
| ENST00000676387.1:c.5257A>C (SBF2) | ENSP00000502779.1:p.Ser1753Arg | |
| ENST00000256190.12:c.5200A>C (SBF2) | ENSP00000256190.8:p.Ser1734Arg | |
| ENST00000525040.5:n.503A>C (SBF2) | ||
| ENST00000529587.1:n.194A>C (SBF2) | ||
| ENST00000532095.1:c.364A>C (SBF2) | ENSP00000434620.1:p.Ser122Arg | |
| ENST00000617179.4:c.5059A>C (SBF2) | ENSP00000482806.1:p.Ser1687Arg | |
| NM_030962.3:c.5200A>C , LRG_267t1:c.5200A>C (SBF2) | NP_112224.1:p.Ser1734Arg | |
| NR_036485.1:n.212-22692T>G (SBF2-AS1) | ||
| XM_005253154.3:c.5296A>C (SBF2) | XP_005253211.1:p.Ser1766Arg | |
| XM_005253155.3:c.5167A>C (SBF2) | XP_005253212.1:p.Ser1723Arg | |
| XM_011520394.1:c.5182A>C (SBF2) | XP_011518696.1:p.Ser1728Arg | |
| XR_931024.1:n.455+380T>G | ||
| XR_931025.1:n.270+2047T>G | ||
| XM_005253154.5:c.5296A>C (SBF2) | XP_005253211.1:p.Ser1766Arg | |
| XM_005253155.5:c.5167A>C (SBF2) | XP_005253212.1:p.Ser1723Arg | |
| XM_011520394.3:c.5182A>C (SBF2) | XP_011518696.1:p.Ser1728Arg | |
| XM_017018372.2:c.5158A>C (SBF2) | XP_016873861.1:p.Ser1720Arg | |
| XM_017018373.2:c.5158A>C (SBF2) | XP_016873862.1:p.Ser1720Arg | |
| XM_017018374.2:c.5071A>C (SBF2) | XP_016873863.1:p.Ser1691Arg | |
| XM_017018375.2:c.5059A>C (SBF2) | XP_016873864.1:p.Ser1687Arg | |
| XR_001747994.2:n.5307A>C (SBF2) | ||
| NM_001386339.1:c.5296A>C (SBF2) | NP_001373268.1:p.Ser1766Arg | |
| NM_001386342.1:c.5071A>C (SBF2) | NP_001373271.1:p.Ser1691Arg | |
| NM_030962.4:c.5200A>C (SBF2) MANE Select | NP_112224.1:p.Ser1734Arg |