Canonical Allele Identifier: CA2612437825

Gene: SBF2 SBF2-AS1

Linked Data

• gnomAD v4: 11-9781397-T-TGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9781398_9781401dup , CM000673.2:g.9781398_9781401dup	GRCh38
NC_000011.9:g.9802945_9802948dup , CM000673.1:g.9802945_9802948dup	GRCh37
NC_000011.8:g.9759521_9759524dup	NCBI36
NG_008074.1:g.517807_517810dup , LRG_267:g.517807_517810dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.1935+106_1935+109dup (SBF2)
ENST00000675281.2:c.5526+106_5526+109dup (SBF2)	ENSP00000502491.1:n.5526+106_5526+109dup
ENST00000676324.2:c.*1759+106_*1759+109dup (SBF2)	ENSP00000502578.1:n.*1759+106_*1759+109dup
ENST00000676387.2:c.5508+106_5508+109dup (SBF2)	ENSP00000502779.1:n.5508+106_5508+109dup
ENST00000688344.1:c.5058+106_5058+109dup (SBF2)	ENSP00000509987.1:n.5058+106_5058+109dup
ENST00000689128.1:c.5547+106_5547+109dup (SBF2)	ENSP00000509587.1:n.5547+106_5547+109dup
ENST00000689258.1:c.5388+106_5388+109dup (SBF2)	ENSP00000510475.1:n.5388+106_5388+109dup
ENST00000689342.1:c.1617+106_1617+109dup (SBF2)
ENST00000689356.1:n.2622+106_2622+109dup (SBF2)
ENST00000689940.1:c.5445+106_5445+109dup (SBF2)	ENSP00000508452.1:n.5445+106_5445+109dup
ENST00000690437.1:n.1400+106_1400+109dup (SBF2)
ENST00000690944.1:c.1531+106_1531+109dup (SBF2)
ENST00000691616.1:n.1927+106_1927+109dup (SBF2)
ENST00000692716.1:c.5322+106_5322+109dup (SBF2)	ENSP00000509545.1:n.5322+106_5322+109dup
ENST00000693541.1:n.2370+106_2370+109dup (SBF2)
ENST00000256190.13:c.5451+106_5451+109dup (SBF2) MANE Select	ENSP00000256190.8:n.5451+106_5451+109dup
ENST00000675281.1:c.5526+106_5526+109dup (SBF2)	ENSP00000502491.1:n.5526+106_5526+109dup
ENST00000676324.1:c.*1759+106_*1759+109dup (SBF2)	ENSP00000502578.1:n.*1759+106_*1759+109dup
ENST00000676387.1:c.5508+106_5508+109dup (SBF2)	ENSP00000502779.1:n.5508+106_5508+109dup
ENST00000256190.12:c.5451+106_5451+109dup (SBF2)	ENSP00000256190.8:n.5451+106_5451+109dup
ENST00000525040.5:n.754+106_754+109dup (SBF2)
ENST00000617179.4:c.5310+106_5310+109dup (SBF2)	ENSP00000482806.1:n.5310+106_5310+109dup
NM_030962.3:c.5451+106_5451+109dup , LRG_267t1:c.5451+106_5451+109dup (SBF2)	NP_112224.1:n.5451+106_5451+109dup
NR_036485.1:n.211+22895_211+22898dup (SBF2-AS1)
XM_005253154.3:c.5547+106_5547+109dup (SBF2)	XP_005253211.1:n.5547+106_5547+109dup
XM_005253155.3:c.5418+106_5418+109dup (SBF2)	XP_005253212.1:n.5418+106_5418+109dup
XM_011520394.1:c.5433+106_5433+109dup (SBF2)	XP_011518696.1:n.5433+106_5433+109dup
XR_931024.1:n.200+823_200+826dup
XR_931025.1:n.200+823_200+826dup
XM_005253154.5:c.5547+106_5547+109dup (SBF2)	XP_005253211.1:n.5547+106_5547+109dup
XM_005253155.5:c.5418+106_5418+109dup (SBF2)	XP_005253212.1:n.5418+106_5418+109dup
XM_011520394.3:c.5433+106_5433+109dup (SBF2)	XP_011518696.1:n.5433+106_5433+109dup
XM_017018372.2:c.5409+106_5409+109dup (SBF2)	XP_016873861.1:n.5409+106_5409+109dup
XM_017018373.2:c.5409+106_5409+109dup (SBF2)	XP_016873862.1:n.5409+106_5409+109dup
XM_017018374.2:c.5322+106_5322+109dup (SBF2)	XP_016873863.1:n.5322+106_5322+109dup
XM_017018375.2:c.5310+106_5310+109dup (SBF2)	XP_016873864.1:n.5310+106_5310+109dup
XR_001747994.2:n.5558+106_5558+109dup (SBF2)
XR_001748470.1:n.200+823_200+826dup
XR_001748471.1:n.85+823_85+826dup
NM_001386339.1:c.5547+106_5547+109dup (SBF2)	NP_001373268.1:n.5547+106_5547+109dup
NM_001386342.1:c.5322+106_5322+109dup (SBF2)	NP_001373271.1:n.5322+106_5322+109dup
NM_030962.4:c.5451+106_5451+109dup (SBF2) MANE Select	NP_112224.1:n.5451+106_5451+109dup