Canonical Allele Identifier: CA1951847096
Community Standard Title: NM_030962.4(SBF2):c.1459C= (p.Arg487=)
Gene: SBF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9968482G= , CM000673.2:g.9968482G= GRCh38
NC_000011.9:g.9990029G= , CM000673.1:g.9990029G= GRCh37
NC_000011.8:g.9946605G= NCBI36
NG_008074.1:g.330726C= , LRG_267:g.330726C=

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.1459C= MANE Select NP_112224.1:p.Arg487=
ENST00000256190.13:c.1459C= MANE Select ENSP00000256190.8:p.Arg487=
NM_001386339.1:c.1459C= NP_001373268.1:p.Arg487=
NM_001386342.1:c.1330C= NP_001373271.1:p.Arg444=
NM_030962.3:c.1459C= , LRG_267t1:c.1459C= NP_112224.1:p.Arg487=
ENST00000256190.12:c.1459C= ENSP00000256190.8:p.Arg487=
ENST00000420722.2:c.278C=
ENST00000420722.3:c.163C= ENSP00000410478.3:p.Arg55=
ENST00000526353.2:n.1609C=
ENST00000530741.2:c.163C= ENSP00000432643.2:p.Arg55=
ENST00000533770.5:n.1374C=
ENST00000533770.6:c.1459C= ENSP00000509247.1:p.Arg487=
ENST00000617179.4:c.1318C= ENSP00000482806.1:p.Arg440=
ENST00000675281.1:c.1459C= ENSP00000502491.1:p.Arg487=
ENST00000675281.2:c.1459C= ENSP00000502491.1:p.Arg487=
ENST00000676324.1:c.1459C= ENSP00000502578.1:p.Arg487=
ENST00000676324.2:c.1459C= ENSP00000502578.1:p.Arg487=
ENST00000676387.1:c.1345C= ENSP00000502779.1:p.Arg449=
ENST00000676387.2:c.1345C= ENSP00000502779.1:p.Arg449=
ENST00000687210.1:c.*81C= ENSP00000509480.1:n.*81C=
ENST00000688344.1:c.1066C= ENSP00000509987.1:p.Arg356=
ENST00000688417.1:n.1609C=
ENST00000689128.1:c.1459C= ENSP00000509587.1:p.Arg487=
ENST00000689258.1:c.1321C= ENSP00000510475.1:p.Arg441=
ENST00000689597.1:c.163C= ENSP00000510781.1:p.Arg55=
ENST00000689674.1:c.163C= ENSP00000510723.1:p.Arg55=
ENST00000689940.1:c.1459C= ENSP00000508452.1:p.Arg487=
ENST00000690003.1:c.163C= ENSP00000508748.1:p.Arg55=
ENST00000690234.1:c.167C= ENSP00000510288.1:p.Ala56=
ENST00000692716.1:c.1330C= ENSP00000509545.1:p.Arg444=
ENST00000693181.1:c.163C= ENSP00000510179.1:p.Arg55=
XM_005253154.3:c.1459C= XP_005253211.1:p.Arg487=
XM_005253154.5:c.1459C= XP_005253211.1:p.Arg487=
XM_005253155.3:c.1330C= XP_005253212.1:p.Arg444=
XM_005253155.5:c.1330C= XP_005253212.1:p.Arg444=
XM_011520394.1:c.1345C= XP_011518696.1:p.Arg449=
XM_011520394.3:c.1345C= XP_011518696.1:p.Arg449=
XM_011520395.1:c.1459C= XP_011518697.1:p.Arg487=
XM_011520395.3:c.1459C= XP_011518697.1:p.Arg487=
XM_011520396.1:c.1459C= XP_011518698.1:p.Arg487=
XM_011520396.3:c.1459C= XP_011518698.1:p.Arg487=
XM_017018372.2:c.1321C= XP_016873861.1:p.Arg441=
XM_017018373.2:c.1321C= XP_016873862.1:p.Arg441=
XM_017018374.2:c.1330C= XP_016873863.1:p.Arg444=
XM_017018375.2:c.1459C= XP_016873864.1:p.Arg487=
XM_017018376.2:c.1459C= XP_016873865.1:p.Arg487=
XM_017018377.2:c.1459C= XP_016873866.1:p.Arg487=
XR_001747994.2:n.1597C=