Canonical Allele Identifier: CA379639129

Gene: SBF2 SBF2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9807999C>G , CM000673.2:g.9807999C>G	GRCh38
NC_000011.9:g.9829546C>G , CM000673.1:g.9829546C>G	GRCh37
NC_000011.8:g.9786122C>G	NCBI36
NG_008074.1:g.491209G>C , LRG_267:g.491209G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_030962.4:c.4443+1G>C (SBF2) MANE Select	NP_112224.1:n.4443+1G>C
ENST00000256190.13:c.4443+1G>C (SBF2) MANE Select	ENSP00000256190.8:n.4443+1G>C
NM_001386339.1:c.4539+1G>C (SBF2)	NP_001373268.1:n.4539+1G>C
NM_001386342.1:c.4314+1G>C (SBF2)	NP_001373271.1:n.4314+1G>C
NM_030962.3:c.4443+1G>C , LRG_267t1:c.4443+1G>C (SBF2)	NP_112224.1:n.4443+1G>C
NR_036485.1:n.363C>G (SBF2-AS1)
ENST00000256190.12:c.4443+1G>C (SBF2)	ENSP00000256190.8:n.4443+1G>C
ENST00000524961.6:n.927+1G>C (SBF2)
ENST00000528478.1:n.511+1G>C (SBF2)
ENST00000532095.2:n.979+1G>C (SBF2)
ENST00000617179.4:c.4302+1G>C (SBF2)	ENSP00000482806.1:n.4302+1G>C
ENST00000675281.1:c.4518+1G>C (SBF2)	ENSP00000502491.1:n.4518+1G>C
ENST00000675281.2:c.4518+1G>C (SBF2)	ENSP00000502491.1:n.4518+1G>C
ENST00000676324.1:c.*751+1G>C (SBF2)	ENSP00000502578.1:n.*751+1G>C
ENST00000676324.2:c.*751+1G>C (SBF2)	ENSP00000502578.1:n.*751+1G>C
ENST00000676387.1:c.4500+1G>C (SBF2)	ENSP00000502779.1:n.4500+1G>C
ENST00000676387.2:c.4500+1G>C (SBF2)	ENSP00000502779.1:n.4500+1G>C
ENST00000688344.1:c.4050+1G>C (SBF2)	ENSP00000509987.1:n.4050+1G>C
ENST00000689128.1:c.4539+1G>C (SBF2)	ENSP00000509587.1:n.4539+1G>C
ENST00000689258.1:c.4380+1G>C (SBF2)	ENSP00000510475.1:n.4380+1G>C
ENST00000689342.1:c.609+1G>C (SBF2)
ENST00000689356.1:n.1614+1G>C (SBF2)
ENST00000689597.1:c.3147+1G>C (SBF2)	ENSP00000510781.1:n.3147+1G>C
ENST00000689940.1:c.4437+1G>C (SBF2)	ENSP00000508452.1:n.4437+1G>C
ENST00000690944.1:c.650+1G>C (SBF2)
ENST00000691616.1:n.919+1G>C (SBF2)
ENST00000692716.1:c.4314+1G>C (SBF2)	ENSP00000509545.1:n.4314+1G>C
ENST00000693541.1:n.1362+1G>C (SBF2)
XM_005253154.3:c.4539+1G>C (SBF2)	XP_005253211.1:n.4539+1G>C
XM_005253154.5:c.4539+1G>C (SBF2)	XP_005253211.1:n.4539+1G>C
XM_005253155.3:c.4410+1G>C (SBF2)	XP_005253212.1:n.4410+1G>C
XM_005253155.5:c.4410+1G>C (SBF2)	XP_005253212.1:n.4410+1G>C
XM_011520394.1:c.4425+1G>C (SBF2)	XP_011518696.1:n.4425+1G>C
XM_011520394.3:c.4425+1G>C (SBF2)	XP_011518696.1:n.4425+1G>C
XM_017018372.2:c.4401+1G>C (SBF2)	XP_016873861.1:n.4401+1G>C
XM_017018373.2:c.4401+1G>C (SBF2)	XP_016873862.1:n.4401+1G>C
XM_017018374.2:c.4314+1G>C (SBF2)	XP_016873863.1:n.4314+1G>C
XM_017018375.2:c.4302+1G>C (SBF2)	XP_016873864.1:n.4302+1G>C
XR_001747994.2:n.4677+1G>C (SBF2)