Canonical Allele Identifier: CA336538

Gene: SBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9816994C>T , CM000673.2:g.9816994C>T	GRCh38
NC_000011.9:g.9838541C>T , CM000673.1:g.9838541C>T	GRCh37
NC_000011.8:g.9795117C>T	NCBI36
NG_008074.1:g.482214G>A , LRG_267:g.482214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.308G>A
ENST00000530741.2:c.2387G>A	ENSP00000432643.2:p.Arg796His
ENST00000532095.2:n.360G>A
ENST00000675281.2:c.3899G>A	ENSP00000502491.1:p.Arg1300His
ENST00000676324.2:c.*132G>A	ENSP00000502578.1:n.*132G>A
ENST00000676387.2:c.3881G>A	ENSP00000502779.1:p.Arg1294His
ENST00000688344.1:c.3431G>A	ENSP00000509987.1:p.Arg1144His
ENST00000689128.1:c.3920G>A	ENSP00000509587.1:p.Arg1307His
ENST00000689258.1:c.3761G>A	ENSP00000510475.1:p.Arg1254His
ENST00000689342.1:c.31G>A
ENST00000689356.1:n.995G>A
ENST00000689597.1:c.2528G>A	ENSP00000510781.1:p.Arg843His
ENST00000689940.1:c.3818G>A	ENSP00000508452.1:p.Arg1273His
ENST00000690944.1:c.31G>A
ENST00000691616.1:n.308G>A
ENST00000692716.1:c.3695G>A	ENSP00000509545.1:p.Arg1232His
ENST00000693541.1:n.743G>A
ENST00000256190.13:c.3824G>A MANE Select	ENSP00000256190.8:p.Arg1275His
ENST00000675281.1:c.3899G>A	ENSP00000502491.1:p.Arg1300His
ENST00000676324.1:c.*132G>A	ENSP00000502578.1:n.*132G>A
ENST00000676387.1:c.3881G>A	ENSP00000502779.1:p.Arg1294His
ENST00000256190.12:c.3824G>A	ENSP00000256190.8:p.Arg1275His
ENST00000524961.5:n.308G>A
ENST00000530741.1:c.571G>A
ENST00000533584.1:n.344G>A
ENST00000617179.4:c.3683G>A	ENSP00000482806.1:p.Arg1228His
NM_030962.3:c.3824G>A , LRG_267t1:c.3824G>A	NP_112224.1:p.Arg1275His
XM_005253154.3:c.3920G>A	XP_005253211.1:p.Arg1307His
XM_005253155.3:c.3791G>A	XP_005253212.1:p.Arg1264His
XM_011520394.1:c.3806G>A	XP_011518696.1:p.Arg1269His
XM_005253154.5:c.3920G>A	XP_005253211.1:p.Arg1307His
XM_005253155.5:c.3791G>A	XP_005253212.1:p.Arg1264His
XM_011520394.3:c.3806G>A	XP_011518696.1:p.Arg1269His
XM_017018372.2:c.3782G>A	XP_016873861.1:p.Arg1261His
XM_017018373.2:c.3782G>A	XP_016873862.1:p.Arg1261His
XM_017018374.2:c.3695G>A	XP_016873863.1:p.Arg1232His
XM_017018375.2:c.3683G>A	XP_016873864.1:p.Arg1228His
XR_001747994.2:n.4058G>A
NM_001386339.1:c.3920G>A	NP_001373268.1:p.Arg1307His
NM_001386342.1:c.3695G>A	NP_001373271.1:p.Arg1232His
NM_030962.4:c.3824G>A MANE Select	NP_112224.1:p.Arg1275His