Canonical Allele Identifier: CA379636337

Gene: SBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9989547C>G , CM000673.2:g.9989547C>G	GRCh38
NC_000011.9:g.10011094C>G , CM000673.1:g.10011094C>G	GRCh37
NC_000011.8:g.9967670C>G	NCBI36
NG_008074.1:g.309661G>C , LRG_267:g.309661G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_030962.4:c.1345G>C MANE Select	NP_112224.1:p.Val449Leu
ENST00000256190.13:c.1345G>C MANE Select	ENSP00000256190.8:p.Val449Leu
NM_001386339.1:c.1345G>C	NP_001373268.1:p.Val449Leu
NM_001386342.1:c.1216G>C	NP_001373271.1:p.Val406Leu
NM_030962.3:c.1345G>C , LRG_267t1:c.1345G>C	NP_112224.1:p.Val449Leu
ENST00000256190.12:c.1345G>C	ENSP00000256190.8:p.Val449Leu
ENST00000420722.2:c.164G>C
ENST00000420722.3:c.49G>C	ENSP00000410478.3:p.Val17Leu
ENST00000526353.2:n.1495G>C
ENST00000530741.2:c.49G>C	ENSP00000432643.2:p.Val17Leu
ENST00000533770.5:n.1260G>C
ENST00000533770.6:c.1345G>C	ENSP00000509247.1:p.Val449Leu
ENST00000617179.4:c.1204G>C	ENSP00000482806.1:p.Val402Leu
ENST00000675281.1:c.1345G>C	ENSP00000502491.1:p.Val449Leu
ENST00000675281.2:c.1345G>C	ENSP00000502491.1:p.Val449Leu
ENST00000676324.1:c.1345G>C	ENSP00000502578.1:p.Val449Leu
ENST00000676324.2:c.1345G>C	ENSP00000502578.1:p.Val449Leu
ENST00000676387.1:c.1231G>C	ENSP00000502779.1:p.Val411Leu
ENST00000676387.2:c.1231G>C	ENSP00000502779.1:p.Val411Leu
ENST00000687210.1:c.1345G>C	ENSP00000509480.1:p.Val449Leu
ENST00000688344.1:c.952G>C	ENSP00000509987.1:p.Val318Leu
ENST00000688417.1:n.1495G>C
ENST00000689128.1:c.1345G>C	ENSP00000509587.1:p.Val449Leu
ENST00000689258.1:c.1207G>C	ENSP00000510475.1:p.Val403Leu
ENST00000689597.1:c.49G>C	ENSP00000510781.1:p.Val17Leu
ENST00000689674.1:c.49G>C	ENSP00000510723.1:p.Val17Leu
ENST00000689940.1:c.1345G>C	ENSP00000508452.1:p.Val449Leu
ENST00000690003.1:c.49G>C	ENSP00000508748.1:p.Val17Leu
ENST00000690234.1:c.49G>C	ENSP00000510288.1:p.Val17Leu
ENST00000692716.1:c.1216G>C	ENSP00000509545.1:p.Val406Leu
ENST00000693181.1:c.49G>C	ENSP00000510179.1:p.Val17Leu
XM_005253154.3:c.1345G>C	XP_005253211.1:p.Val449Leu
XM_005253154.5:c.1345G>C	XP_005253211.1:p.Val449Leu
XM_005253155.3:c.1216G>C	XP_005253212.1:p.Val406Leu
XM_005253155.5:c.1216G>C	XP_005253212.1:p.Val406Leu
XM_011520394.1:c.1231G>C	XP_011518696.1:p.Val411Leu
XM_011520394.3:c.1231G>C	XP_011518696.1:p.Val411Leu
XM_011520395.1:c.1345G>C	XP_011518697.1:p.Val449Leu
XM_011520395.3:c.1345G>C	XP_011518697.1:p.Val449Leu
XM_011520396.1:c.1345G>C	XP_011518698.1:p.Val449Leu
XM_011520396.3:c.1345G>C	XP_011518698.1:p.Val449Leu
XM_017018372.2:c.1207G>C	XP_016873861.1:p.Val403Leu
XM_017018373.2:c.1207G>C	XP_016873862.1:p.Val403Leu
XM_017018374.2:c.1216G>C	XP_016873863.1:p.Val406Leu
XM_017018375.2:c.1345G>C	XP_016873864.1:p.Val449Leu
XM_017018376.2:c.1345G>C	XP_016873865.1:p.Val449Leu
XM_017018377.2:c.1345G>C	XP_016873866.1:p.Val449Leu
XR_001747994.2:n.1483G>C