Canonical Allele Identifier: CA1951790249
Community Standard Title: NM_030962.4(SBF2):c.3586C= (p.Arg1196=)
Gene: SBF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9832290G= , CM000673.2:g.9832290G= GRCh38
NC_000011.9:g.9853837G= , CM000673.1:g.9853837G= GRCh37
NC_000011.8:g.9810413G= NCBI36
NG_008074.1:g.466918C= , LRG_267:g.466918C=

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.3586C= MANE Select NP_112224.1:p.Arg1196=
ENST00000256190.13:c.3586C= MANE Select ENSP00000256190.8:p.Arg1196=
NM_001386339.1:c.3586C= NP_001373268.1:p.Arg1196=
NM_001386342.1:c.3457C= NP_001373271.1:p.Arg1153=
NM_030962.3:c.3586C= , LRG_267t1:c.3586C= NP_112224.1:p.Arg1196=
ENST00000256190.12:c.3586C= ENSP00000256190.8:p.Arg1196=
ENST00000530741.1:c.237C=
ENST00000530741.2:c.2290C= ENSP00000432643.2:p.Arg764=
ENST00000617179.4:c.3445C= ENSP00000482806.1:p.Arg1149=
ENST00000675281.1:c.3586C= ENSP00000502491.1:p.Arg1196=
ENST00000675281.2:c.3586C= ENSP00000502491.1:p.Arg1196=
ENST00000676324.1:c.3586C= ENSP00000502578.1:p.Arg1196=
ENST00000676324.2:c.3586C= ENSP00000502578.1:p.Arg1196=
ENST00000676387.1:c.3472C= ENSP00000502779.1:p.Arg1158=
ENST00000676387.2:c.3472C= ENSP00000502779.1:p.Arg1158=
ENST00000688344.1:c.3193C= ENSP00000509987.1:p.Arg1065=
ENST00000689128.1:c.3586C= ENSP00000509587.1:p.Arg1196=
ENST00000689258.1:c.3448C= ENSP00000510475.1:p.Arg1150=
ENST00000689356.1:n.757C=
ENST00000689597.1:c.2290C= ENSP00000510781.1:p.Arg764=
ENST00000689674.1:c.2480C= ENSP00000510723.1:n.2480C=
ENST00000689940.1:c.3580C= ENSP00000508452.1:p.Arg1194=
ENST00000690003.1:c.2385C= ENSP00000508748.1:n.2385C=
ENST00000692716.1:c.3457C= ENSP00000509545.1:p.Arg1153=
ENST00000693181.1:c.2415C= ENSP00000510179.1:n.2415C=
XM_005253154.3:c.3586C= XP_005253211.1:p.Arg1196=
XM_005253154.5:c.3586C= XP_005253211.1:p.Arg1196=
XM_005253155.3:c.3457C= XP_005253212.1:p.Arg1153=
XM_005253155.5:c.3457C= XP_005253212.1:p.Arg1153=
XM_011520394.1:c.3472C= XP_011518696.1:p.Arg1158=
XM_011520394.3:c.3472C= XP_011518696.1:p.Arg1158=
XM_011520395.1:c.3586C= XP_011518697.1:p.Arg1196=
XM_011520395.3:c.3586C= XP_011518697.1:p.Arg1196=
XM_017018372.2:c.3448C= XP_016873861.1:p.Arg1150=
XM_017018373.2:c.3448C= XP_016873862.1:p.Arg1150=
XM_017018374.2:c.3457C= XP_016873863.1:p.Arg1153=
XM_017018375.2:c.3586C= XP_016873864.1:p.Arg1196=
XM_017018376.2:c.3586C= XP_016873865.1:p.Arg1196=
XR_001747994.2:n.3724C=