Canonical Allele Identifier: CA379631495
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Linked Data

gnomAD v4: 11-9785154-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9785154G>C , CM000673.2:g.9785154G>C GRCh38
NC_000011.9:g.9806701G>C , CM000673.1:g.9806701G>C GRCh37
NC_000011.8:g.9763277G>C NCBI36
NG_008074.1:g.514054C>G , LRG_267:g.514054C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524961.6:n.1686C>G (SBF2)
ENST00000529587.2:n.196C>G (SBF2)
ENST00000532095.2:n.1738C>G (SBF2)
ENST00000675281.2:c.5277C>G (SBF2) ENSP00000502491.1:p.Ser1759Arg
ENST00000676324.2:c.*1510C>G (SBF2) ENSP00000502578.1:n.*1510C>G
ENST00000676387.2:c.5259C>G (SBF2) ENSP00000502779.1:p.Ser1753Arg
ENST00000688344.1:c.4809C>G (SBF2) ENSP00000509987.1:p.Ser1603Arg
ENST00000689128.1:c.5298C>G (SBF2) ENSP00000509587.1:p.Ser1766Arg
ENST00000689258.1:c.5139C>G (SBF2) ENSP00000510475.1:p.Ser1713Arg
ENST00000689342.1:c.1368C>G (SBF2)
ENST00000689356.1:n.2373C>G (SBF2)
ENST00000689597.1:c.3906C>G (SBF2) ENSP00000510781.1:p.Ser1302Arg
ENST00000689940.1:c.5196C>G (SBF2) ENSP00000508452.1:p.Ser1732Arg
ENST00000690944.1:c.1282C>G (SBF2)
ENST00000691616.1:n.1678C>G (SBF2)
ENST00000692716.1:c.5073C>G (SBF2) ENSP00000509545.1:p.Ser1691Arg
ENST00000693541.1:n.2121C>G (SBF2)
ENST00000256190.13:c.5202C>G (SBF2) MANE Select ENSP00000256190.8:p.Ser1734Arg
ENST00000675281.1:c.5277C>G (SBF2) ENSP00000502491.1:p.Ser1759Arg
ENST00000676324.1:c.*1510C>G (SBF2) ENSP00000502578.1:n.*1510C>G
ENST00000676387.1:c.5259C>G (SBF2) ENSP00000502779.1:p.Ser1753Arg
ENST00000256190.12:c.5202C>G (SBF2) ENSP00000256190.8:p.Ser1734Arg
ENST00000525040.5:n.505C>G (SBF2)
ENST00000529587.1:n.196C>G (SBF2)
ENST00000532095.1:c.366C>G (SBF2) ENSP00000434620.1:p.Ser122Arg
ENST00000617179.4:c.5061C>G (SBF2) ENSP00000482806.1:p.Ser1687Arg
NM_030962.3:c.5202C>G , LRG_267t1:c.5202C>G (SBF2) NP_112224.1:p.Ser1734Arg
NR_036485.1:n.212-22694G>C (SBF2-AS1)
XM_005253154.3:c.5298C>G (SBF2) XP_005253211.1:p.Ser1766Arg
XM_005253155.3:c.5169C>G (SBF2) XP_005253212.1:p.Ser1723Arg
XM_011520394.1:c.5184C>G (SBF2) XP_011518696.1:p.Ser1728Arg
XR_931024.1:n.455+378G>C
XR_931025.1:n.270+2045G>C
XM_005253154.5:c.5298C>G (SBF2) XP_005253211.1:p.Ser1766Arg
XM_005253155.5:c.5169C>G (SBF2) XP_005253212.1:p.Ser1723Arg
XM_011520394.3:c.5184C>G (SBF2) XP_011518696.1:p.Ser1728Arg
XM_017018372.2:c.5160C>G (SBF2) XP_016873861.1:p.Ser1720Arg
XM_017018373.2:c.5160C>G (SBF2) XP_016873862.1:p.Ser1720Arg
XM_017018374.2:c.5073C>G (SBF2) XP_016873863.1:p.Ser1691Arg
XM_017018375.2:c.5061C>G (SBF2) XP_016873864.1:p.Ser1687Arg
XR_001747994.2:n.5309C>G (SBF2)
NM_001386339.1:c.5298C>G (SBF2) NP_001373268.1:p.Ser1766Arg
NM_001386342.1:c.5073C>G (SBF2) NP_001373271.1:p.Ser1691Arg
NM_030962.4:c.5202C>G (SBF2) MANE Select NP_112224.1:p.Ser1734Arg