Canonical Allele Identifier: CA5881240
Community Standard Title: NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter)
Gene: SBF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9832350G>A , CM000673.2:g.9832350G>A GRCh38
NC_000011.9:g.9853897G>A , CM000673.1:g.9853897G>A GRCh37
NC_000011.8:g.9810473G>A NCBI36
NG_008074.1:g.466858C>T , LRG_267:g.466858C>T

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.3526C>T MANE Select NP_112224.1:p.Arg1176Ter
ENST00000256190.13:c.3526C>T MANE Select ENSP00000256190.8:p.Arg1176Ter
NM_001386339.1:c.3526C>T NP_001373268.1:p.Arg1176Ter
NM_001386342.1:c.3397C>T NP_001373271.1:p.Arg1133Ter
NM_030962.3:c.3526C>T , LRG_267t1:c.3526C>T NP_112224.1:p.Arg1176Ter
ENST00000256190.12:c.3526C>T ENSP00000256190.8:p.Arg1176Ter
ENST00000530741.1:c.177C>T
ENST00000530741.2:c.2230C>T ENSP00000432643.2:p.Arg744Ter
ENST00000617179.4:c.3385C>T ENSP00000482806.1:p.Arg1129Ter
ENST00000675281.1:c.3526C>T ENSP00000502491.1:p.Arg1176Ter
ENST00000675281.2:c.3526C>T ENSP00000502491.1:p.Arg1176Ter
ENST00000676324.1:c.3526C>T ENSP00000502578.1:p.Arg1176Ter
ENST00000676324.2:c.3526C>T ENSP00000502578.1:p.Arg1176Ter
ENST00000676387.1:c.3412C>T ENSP00000502779.1:p.Arg1138Ter
ENST00000676387.2:c.3412C>T ENSP00000502779.1:p.Arg1138Ter
ENST00000688344.1:c.3133C>T ENSP00000509987.1:p.Arg1045Ter
ENST00000689128.1:c.3526C>T ENSP00000509587.1:p.Arg1176Ter
ENST00000689258.1:c.3388C>T ENSP00000510475.1:p.Arg1130Ter
ENST00000689356.1:n.697C>T
ENST00000689597.1:c.2230C>T ENSP00000510781.1:p.Arg744Ter
ENST00000689674.1:c.2420C>T ENSP00000510723.1:n.2420C>T
ENST00000689940.1:c.3520C>T ENSP00000508452.1:p.Arg1174Ter
ENST00000690003.1:c.2325C>T ENSP00000508748.1:n.2325C>T
ENST00000692716.1:c.3397C>T ENSP00000509545.1:p.Arg1133Ter
ENST00000693181.1:c.2355C>T ENSP00000510179.1:n.2355C>T
XM_005253154.3:c.3526C>T XP_005253211.1:p.Arg1176Ter
XM_005253154.5:c.3526C>T XP_005253211.1:p.Arg1176Ter
XM_005253155.3:c.3397C>T XP_005253212.1:p.Arg1133Ter
XM_005253155.5:c.3397C>T XP_005253212.1:p.Arg1133Ter
XM_011520394.1:c.3412C>T XP_011518696.1:p.Arg1138Ter
XM_011520394.3:c.3412C>T XP_011518696.1:p.Arg1138Ter
XM_011520395.1:c.3526C>T XP_011518697.1:p.Arg1176Ter
XM_011520395.3:c.3526C>T XP_011518697.1:p.Arg1176Ter
XM_017018372.2:c.3388C>T XP_016873861.1:p.Arg1130Ter
XM_017018373.2:c.3388C>T XP_016873862.1:p.Arg1130Ter
XM_017018374.2:c.3397C>T XP_016873863.1:p.Arg1133Ter
XM_017018375.2:c.3526C>T XP_016873864.1:p.Arg1176Ter
XM_017018376.2:c.3526C>T XP_016873865.1:p.Arg1176Ter
XR_001747994.2:n.3664C>T