Canonical Allele Identifier: CA379639551

Gene: SBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9998283G>A , CM000673.2:g.9998283G>A	GRCh38
NC_000011.9:g.10019830G>A , CM000673.1:g.10019830G>A	GRCh37
NC_000011.8:g.9976406G>A	NCBI36
NG_008074.1:g.300925C>T , LRG_267:g.300925C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_030962.4:c.958C>T MANE Select	NP_112224.1:p.Gln320Ter
ENST00000256190.13:c.958C>T MANE Select	ENSP00000256190.8:p.Gln320Ter
NM_001386339.1:c.958C>T	NP_001373268.1:p.Gln320Ter
NM_001386342.1:c.958C>T	NP_001373271.1:p.Gln320Ter
NM_030962.3:c.958C>T , LRG_267t1:c.958C>T	NP_112224.1:p.Gln320Ter
ENST00000256190.12:c.958C>T	ENSP00000256190.8:p.Gln320Ter
ENST00000526353.2:n.1108C>T
ENST00000527019.5:n.808+2631C>T
ENST00000533770.5:n.873C>T
ENST00000533770.6:c.958C>T	ENSP00000509247.1:p.Gln320Ter
ENST00000617179.4:c.817C>T	ENSP00000482806.1:p.Gln273Ter
ENST00000675281.1:c.958C>T	ENSP00000502491.1:p.Gln320Ter
ENST00000675281.2:c.958C>T	ENSP00000502491.1:p.Gln320Ter
ENST00000676324.1:c.958C>T	ENSP00000502578.1:p.Gln320Ter
ENST00000676324.2:c.958C>T	ENSP00000502578.1:p.Gln320Ter
ENST00000676387.1:c.861+2631C>T	ENSP00000502779.1:n.861+2631C>T
ENST00000676387.2:c.861+2631C>T	ENSP00000502779.1:n.861+2631C>T
ENST00000687210.1:c.958C>T	ENSP00000509480.1:p.Gln320Ter
ENST00000688344.1:c.582+2631C>T	ENSP00000509987.1:n.582+2631C>T
ENST00000688417.1:n.1108C>T
ENST00000689128.1:c.958C>T	ENSP00000509587.1:p.Gln320Ter
ENST00000689258.1:c.820C>T	ENSP00000510475.1:p.Gln274Ter
ENST00000689940.1:c.958C>T	ENSP00000508452.1:p.Gln320Ter
ENST00000692716.1:c.958C>T	ENSP00000509545.1:p.Gln320Ter
ENST00000693022.1:c.958C>T	ENSP00000508914.1:p.Gln320Ter
XM_005253154.3:c.958C>T	XP_005253211.1:p.Gln320Ter
XM_005253154.5:c.958C>T	XP_005253211.1:p.Gln320Ter
XM_005253155.3:c.958C>T	XP_005253212.1:p.Gln320Ter
XM_005253155.5:c.958C>T	XP_005253212.1:p.Gln320Ter
XM_011520394.1:c.861+2631C>T	XP_011518696.1:n.861+2631C>T
XM_011520394.3:c.861+2631C>T	XP_011518696.1:n.861+2631C>T
XM_011520395.1:c.958C>T	XP_011518697.1:p.Gln320Ter
XM_011520395.3:c.958C>T	XP_011518697.1:p.Gln320Ter
XM_011520396.1:c.958C>T	XP_011518698.1:p.Gln320Ter
XM_011520396.3:c.958C>T	XP_011518698.1:p.Gln320Ter
XM_017018372.2:c.820C>T	XP_016873861.1:p.Gln274Ter
XM_017018373.2:c.820C>T	XP_016873862.1:p.Gln274Ter
XM_017018374.2:c.958C>T	XP_016873863.1:p.Gln320Ter
XM_017018375.2:c.958C>T	XP_016873864.1:p.Gln320Ter
XM_017018376.2:c.958C>T	XP_016873865.1:p.Gln320Ter
XM_017018377.2:c.958C>T	XP_016873866.1:p.Gln320Ter
XR_001747994.2:n.1096C>T