Canonical Allele Identifier: CA5881072

Gene: SBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9812633T>C , CM000673.2:g.9812633T>C	GRCh38
NC_000011.9:g.9834180T>C , CM000673.1:g.9834180T>C	GRCh37
NC_000011.8:g.9790756T>C	NCBI36
NG_008074.1:g.486575A>G , LRG_267:g.486575A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_030962.4:c.4054A>G MANE Select	NP_112224.1:p.Ser1352Gly
ENST00000256190.13:c.4054A>G MANE Select	ENSP00000256190.8:p.Ser1352Gly
NM_001386339.1:c.4150A>G	NP_001373268.1:p.Ser1384Gly
NM_001386342.1:c.3925A>G	NP_001373271.1:p.Ser1309Gly
NM_030962.3:c.4054A>G , LRG_267t1:c.4054A>G	NP_112224.1:p.Ser1352Gly
ENST00000256190.12:c.4054A>G	ENSP00000256190.8:p.Ser1352Gly
ENST00000524961.5:n.538A>G
ENST00000524961.6:n.538A>G
ENST00000528478.1:n.122A>G
ENST00000530741.1:c.801A>G
ENST00000530741.2:c.2617A>G	ENSP00000432643.2:p.Ser873Gly
ENST00000532095.2:n.590A>G
ENST00000617179.4:c.3913A>G	ENSP00000482806.1:p.Ser1305Gly
ENST00000675281.1:c.4129A>G	ENSP00000502491.1:p.Ser1377Gly
ENST00000675281.2:c.4129A>G	ENSP00000502491.1:p.Ser1377Gly
ENST00000676324.1:c.*362A>G	ENSP00000502578.1:n.*362A>G
ENST00000676324.2:c.*362A>G	ENSP00000502578.1:n.*362A>G
ENST00000676387.1:c.4111A>G	ENSP00000502779.1:p.Ser1371Gly
ENST00000676387.2:c.4111A>G	ENSP00000502779.1:p.Ser1371Gly
ENST00000688344.1:c.3661A>G	ENSP00000509987.1:p.Ser1221Gly
ENST00000689128.1:c.4150A>G	ENSP00000509587.1:p.Ser1384Gly
ENST00000689258.1:c.3991A>G	ENSP00000510475.1:p.Ser1331Gly
ENST00000689342.1:c.261A>G
ENST00000689356.1:n.1225A>G
ENST00000689597.1:c.2758A>G	ENSP00000510781.1:p.Ser920Gly
ENST00000689940.1:c.4048A>G	ENSP00000508452.1:p.Ser1350Gly
ENST00000690944.1:c.261A>G
ENST00000691616.1:n.538A>G
ENST00000692716.1:c.3925A>G	ENSP00000509545.1:p.Ser1309Gly
ENST00000693541.1:n.973A>G
XM_005253154.3:c.4150A>G	XP_005253211.1:p.Ser1384Gly
XM_005253154.5:c.4150A>G	XP_005253211.1:p.Ser1384Gly
XM_005253155.3:c.4021A>G	XP_005253212.1:p.Ser1341Gly
XM_005253155.5:c.4021A>G	XP_005253212.1:p.Ser1341Gly
XM_011520394.1:c.4036A>G	XP_011518696.1:p.Ser1346Gly
XM_011520394.3:c.4036A>G	XP_011518696.1:p.Ser1346Gly
XM_017018372.2:c.4012A>G	XP_016873861.1:p.Ser1338Gly
XM_017018373.2:c.4012A>G	XP_016873862.1:p.Ser1338Gly
XM_017018374.2:c.3925A>G	XP_016873863.1:p.Ser1309Gly
XM_017018375.2:c.3913A>G	XP_016873864.1:p.Ser1305Gly
XR_001747994.2:n.4288A>G