Canonical Allele Identifier: CA350504

Gene: SBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9968517T>C , CM000673.2:g.9968517T>C	GRCh38
NC_000011.9:g.9990064T>C , CM000673.1:g.9990064T>C	GRCh37
NC_000011.8:g.9946640T>C	NCBI36
NG_008074.1:g.330691A>G , LRG_267:g.330691A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_030962.4:c.1424A>G MANE Select	NP_112224.1:p.Gln475Arg
ENST00000256190.13:c.1424A>G MANE Select	ENSP00000256190.8:p.Gln475Arg
NM_001386339.1:c.1424A>G	NP_001373268.1:p.Gln475Arg
NM_001386342.1:c.1295A>G	NP_001373271.1:p.Gln432Arg
NM_030962.3:c.1424A>G , LRG_267t1:c.1424A>G	NP_112224.1:p.Gln475Arg
ENST00000256190.12:c.1424A>G	ENSP00000256190.8:p.Gln475Arg
ENST00000420722.2:c.243A>G
ENST00000420722.3:c.128A>G	ENSP00000410478.3:p.Gln43Arg
ENST00000526353.2:n.1574A>G
ENST00000530741.2:c.128A>G	ENSP00000432643.2:p.Gln43Arg
ENST00000533770.5:n.1339A>G
ENST00000533770.6:c.1424A>G	ENSP00000509247.1:p.Gln475Arg
ENST00000617179.4:c.1283A>G	ENSP00000482806.1:p.Gln428Arg
ENST00000675281.1:c.1424A>G	ENSP00000502491.1:p.Gln475Arg
ENST00000675281.2:c.1424A>G	ENSP00000502491.1:p.Gln475Arg
ENST00000676324.1:c.1424A>G	ENSP00000502578.1:p.Gln475Arg
ENST00000676324.2:c.1424A>G	ENSP00000502578.1:p.Gln475Arg
ENST00000676387.1:c.1310A>G	ENSP00000502779.1:p.Gln437Arg
ENST00000676387.2:c.1310A>G	ENSP00000502779.1:p.Gln437Arg
ENST00000687210.1:c.*46A>G	ENSP00000509480.1:n.*46A>G
ENST00000688344.1:c.1031A>G	ENSP00000509987.1:p.Gln344Arg
ENST00000688417.1:n.1574A>G
ENST00000689128.1:c.1424A>G	ENSP00000509587.1:p.Gln475Arg
ENST00000689258.1:c.1286A>G	ENSP00000510475.1:p.Gln429Arg
ENST00000689597.1:c.128A>G	ENSP00000510781.1:p.Gln43Arg
ENST00000689674.1:c.128A>G	ENSP00000510723.1:p.Gln43Arg
ENST00000689940.1:c.1424A>G	ENSP00000508452.1:p.Gln475Arg
ENST00000690003.1:c.128A>G	ENSP00000508748.1:p.Gln43Arg
ENST00000690234.1:c.132A>G	ENSP00000510288.1:p.Pro44=
ENST00000692716.1:c.1295A>G	ENSP00000509545.1:p.Gln432Arg
ENST00000693181.1:c.128A>G	ENSP00000510179.1:p.Gln43Arg
XM_005253154.3:c.1424A>G	XP_005253211.1:p.Gln475Arg
XM_005253154.5:c.1424A>G	XP_005253211.1:p.Gln475Arg
XM_005253155.3:c.1295A>G	XP_005253212.1:p.Gln432Arg
XM_005253155.5:c.1295A>G	XP_005253212.1:p.Gln432Arg
XM_011520394.1:c.1310A>G	XP_011518696.1:p.Gln437Arg
XM_011520394.3:c.1310A>G	XP_011518696.1:p.Gln437Arg
XM_011520395.1:c.1424A>G	XP_011518697.1:p.Gln475Arg
XM_011520395.3:c.1424A>G	XP_011518697.1:p.Gln475Arg
XM_011520396.1:c.1424A>G	XP_011518698.1:p.Gln475Arg
XM_011520396.3:c.1424A>G	XP_011518698.1:p.Gln475Arg
XM_017018372.2:c.1286A>G	XP_016873861.1:p.Gln429Arg
XM_017018373.2:c.1286A>G	XP_016873862.1:p.Gln429Arg
XM_017018374.2:c.1295A>G	XP_016873863.1:p.Gln432Arg
XM_017018375.2:c.1424A>G	XP_016873864.1:p.Gln475Arg
XM_017018376.2:c.1424A>G	XP_016873865.1:p.Gln475Arg
XM_017018377.2:c.1424A>G	XP_016873866.1:p.Gln475Arg
XR_001747994.2:n.1562A>G