Canonical Allele Identifier: CA115868

Gene: SBF2

Linked Data

• ClinVar Variation Id: 2912
• ClinVar RCV Id: RCV000003046 ; RCV000790190 ; RCV001055475 ; RCV003231071
• dbSNP Id: rs120074139
• gnomAD v4: 11-9968482-G-A
• MyVariant Identifiers: chr11:g.9990029G>A (hg19) ; chr11:g.9968482G>A (hg38)
• PubMed: PMID:10932274 ; PMID:15304601

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9968482G>A , CM000673.2:g.9968482G>A	GRCh38
NC_000011.9:g.9990029G>A , CM000673.1:g.9990029G>A	GRCh37
NC_000011.8:g.9946605G>A	NCBI36
NG_008074.1:g.330726C>T , LRG_267:g.330726C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000420722.3:c.163C>T	ENSP00000410478.3:p.Arg55Ter
ENST00000526353.2:n.1609C>T
ENST00000530741.2:c.163C>T	ENSP00000432643.2:p.Arg55Ter
ENST00000533770.6:c.1459C>T	ENSP00000509247.1:p.Arg487Ter
ENST00000675281.2:c.1459C>T	ENSP00000502491.1:p.Arg487Ter
ENST00000676324.2:c.1459C>T	ENSP00000502578.1:p.Arg487Ter
ENST00000676387.2:c.1345C>T	ENSP00000502779.1:p.Arg449Ter
ENST00000687210.1:c.*81C>T	ENSP00000509480.1:n.*81C>T
ENST00000688344.1:c.1066C>T	ENSP00000509987.1:p.Arg356Ter
ENST00000688417.1:n.1609C>T
ENST00000689128.1:c.1459C>T	ENSP00000509587.1:p.Arg487Ter
ENST00000689258.1:c.1321C>T	ENSP00000510475.1:p.Arg441Ter
ENST00000689597.1:c.163C>T	ENSP00000510781.1:p.Arg55Ter
ENST00000689674.1:c.163C>T	ENSP00000510723.1:p.Arg55Ter
ENST00000689940.1:c.1459C>T	ENSP00000508452.1:p.Arg487Ter
ENST00000690003.1:c.163C>T	ENSP00000508748.1:p.Arg55Ter
ENST00000690234.1:c.167C>T	ENSP00000510288.1:p.Ala56Val
ENST00000692716.1:c.1330C>T	ENSP00000509545.1:p.Arg444Ter
ENST00000693181.1:c.163C>T	ENSP00000510179.1:p.Arg55Ter
ENST00000256190.13:c.1459C>T MANE Select	ENSP00000256190.8:p.Arg487Ter
ENST00000675281.1:c.1459C>T	ENSP00000502491.1:p.Arg487Ter
ENST00000676324.1:c.1459C>T	ENSP00000502578.1:p.Arg487Ter
ENST00000676387.1:c.1345C>T	ENSP00000502779.1:p.Arg449Ter
ENST00000256190.12:c.1459C>T	ENSP00000256190.8:p.Arg487Ter
ENST00000420722.2:c.278C>T
ENST00000533770.5:n.1374C>T
ENST00000617179.4:c.1318C>T	ENSP00000482806.1:p.Arg440Ter
NM_030962.3:c.1459C>T , LRG_267t1:c.1459C>T	NP_112224.1:p.Arg487Ter
XM_005253154.3:c.1459C>T	XP_005253211.1:p.Arg487Ter
XM_005253155.3:c.1330C>T	XP_005253212.1:p.Arg444Ter
XM_011520394.1:c.1345C>T	XP_011518696.1:p.Arg449Ter
XM_011520395.1:c.1459C>T	XP_011518697.1:p.Arg487Ter
XM_011520396.1:c.1459C>T	XP_011518698.1:p.Arg487Ter
XM_005253154.5:c.1459C>T	XP_005253211.1:p.Arg487Ter
XM_005253155.5:c.1330C>T	XP_005253212.1:p.Arg444Ter
XM_011520394.3:c.1345C>T	XP_011518696.1:p.Arg449Ter
XM_011520395.3:c.1459C>T	XP_011518697.1:p.Arg487Ter
XM_011520396.3:c.1459C>T	XP_011518698.1:p.Arg487Ter
XM_017018372.2:c.1321C>T	XP_016873861.1:p.Arg441Ter
XM_017018373.2:c.1321C>T	XP_016873862.1:p.Arg441Ter
XM_017018374.2:c.1330C>T	XP_016873863.1:p.Arg444Ter
XM_017018375.2:c.1459C>T	XP_016873864.1:p.Arg487Ter
XM_017018376.2:c.1459C>T	XP_016873865.1:p.Arg487Ter
XM_017018377.2:c.1459C>T	XP_016873866.1:p.Arg487Ter
XR_001747994.2:n.1597C>T
NM_001386339.1:c.1459C>T	NP_001373268.1:p.Arg487Ter
NM_001386342.1:c.1330C>T	NP_001373271.1:p.Arg444Ter
NM_030962.4:c.1459C>T MANE Select	NP_112224.1:p.Arg487Ter