Canonical Allele Identifier: CA5881178

Gene: SBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9829416G>A , CM000673.2:g.9829416G>A	GRCh38
NC_000011.9:g.9850963G>A , CM000673.1:g.9850963G>A	GRCh37
NC_000011.8:g.9807539G>A	NCBI36
NG_008074.1:g.469792C>T , LRG_267:g.469792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530741.2:c.2356+2808C>T	ENSP00000432643.2:n.2356+2808C>T
ENST00000675281.2:c.3733C>T	ENSP00000502491.1:p.His1245Tyr
ENST00000676324.2:c.3733C>T	ENSP00000502578.1:p.His1245Tyr
ENST00000676387.2:c.3619C>T	ENSP00000502779.1:p.His1207Tyr
ENST00000688344.1:c.3340C>T	ENSP00000509987.1:p.His1114Tyr
ENST00000689128.1:c.3733C>T	ENSP00000509587.1:p.His1245Tyr
ENST00000689258.1:c.3595C>T	ENSP00000510475.1:p.His1199Tyr
ENST00000689356.1:n.904C>T
ENST00000689597.1:c.2437C>T	ENSP00000510781.1:p.His813Tyr
ENST00000689940.1:c.3727C>T	ENSP00000508452.1:p.His1243Tyr
ENST00000692716.1:c.3604C>T	ENSP00000509545.1:p.His1202Tyr
ENST00000256190.13:c.3733C>T MANE Select	ENSP00000256190.8:p.His1245Tyr
ENST00000675281.1:c.3733C>T	ENSP00000502491.1:p.His1245Tyr
ENST00000676324.1:c.3733C>T	ENSP00000502578.1:p.His1245Tyr
ENST00000676387.1:c.3619C>T	ENSP00000502779.1:p.His1207Tyr
ENST00000256190.12:c.3733C>T	ENSP00000256190.8:p.His1245Tyr
ENST00000530741.1:c.384C>T
ENST00000533584.1:n.253C>T
ENST00000617179.4:c.3592C>T	ENSP00000482806.1:p.His1198Tyr
NM_030962.3:c.3733C>T , LRG_267t1:c.3733C>T	NP_112224.1:p.His1245Tyr
XM_005253154.3:c.3733C>T	XP_005253211.1:p.His1245Tyr
XM_005253155.3:c.3604C>T	XP_005253212.1:p.His1202Tyr
XM_011520394.1:c.3619C>T	XP_011518696.1:p.His1207Tyr
XM_011520395.1:c.3733C>T	XP_011518697.1:p.His1245Tyr
XM_005253154.5:c.3733C>T	XP_005253211.1:p.His1245Tyr
XM_005253155.5:c.3604C>T	XP_005253212.1:p.His1202Tyr
XM_011520394.3:c.3619C>T	XP_011518696.1:p.His1207Tyr
XM_011520395.3:c.3733C>T	XP_011518697.1:p.His1245Tyr
XM_017018372.2:c.3595C>T	XP_016873861.1:p.His1199Tyr
XM_017018373.2:c.3595C>T	XP_016873862.1:p.His1199Tyr
XM_017018374.2:c.3604C>T	XP_016873863.1:p.His1202Tyr
XM_017018375.2:c.3652+2808C>T	XP_016873864.1:n.3652+2808C>T
XM_017018376.2:c.3733C>T	XP_016873865.1:p.His1245Tyr
XR_001747994.2:n.3871C>T
NM_001386339.1:c.3733C>T	NP_001373268.1:p.His1245Tyr
NM_001386342.1:c.3604C>T	NP_001373271.1:p.His1202Tyr
NM_030962.4:c.3733C>T MANE Select	NP_112224.1:p.His1245Tyr