Canonical Allele Identifier: CA5881811

Gene: SBF2

Linked Data

• ClinVar Variation Id: 306607
• ClinVar RCV Id: RCV000415759 ; RCV000419409 ; RCV000548897 ; RCV001094222 ; RCV001173805 ; RCV002392845 ; RCV003957588
• dbSNP Id: rs143773975
• ExAC: 11:9989979 T / C
• gnomAD v2: 11-9989979-T-C
• gnomAD v3: 11-9968432-T-C
• gnomAD v4: 11-9968432-T-C
• MyVariant Identifiers: chr11:g.9989979T>C (hg19) ; chr11:g.9968432T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9968432T>C , CM000673.2:g.9968432T>C	GRCh38
NC_000011.9:g.9989979T>C , CM000673.1:g.9989979T>C	GRCh37
NC_000011.8:g.9946555T>C	NCBI36
NG_008074.1:g.330776A>G , LRG_267:g.330776A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000420722.3:c.213A>G	ENSP00000410478.3:p.Glu71=
ENST00000526353.2:n.1659A>G
ENST00000530741.2:c.213A>G	ENSP00000432643.2:p.Glu71=
ENST00000533770.6:c.1509A>G	ENSP00000509247.1:p.Glu503=
ENST00000675281.2:c.1509A>G	ENSP00000502491.1:p.Glu503=
ENST00000676324.2:c.1509A>G	ENSP00000502578.1:p.Glu503=
ENST00000676387.2:c.1395A>G	ENSP00000502779.1:p.Glu465=
ENST00000687210.1:c.*131A>G	ENSP00000509480.1:n.*131A>G
ENST00000688344.1:c.1116A>G	ENSP00000509987.1:p.Glu372=
ENST00000688417.1:n.1659A>G
ENST00000689128.1:c.1509A>G	ENSP00000509587.1:p.Glu503=
ENST00000689258.1:c.1371A>G	ENSP00000510475.1:p.Glu457=
ENST00000689597.1:c.213A>G	ENSP00000510781.1:p.Glu71=
ENST00000689674.1:c.213A>G	ENSP00000510723.1:p.Glu71=
ENST00000689940.1:c.1509A>G	ENSP00000508452.1:p.Glu503=
ENST00000690003.1:c.213A>G	ENSP00000508748.1:p.Glu71=
ENST00000690234.1:c.217A>G	ENSP00000510288.1:n.217A>G
ENST00000692716.1:c.1380A>G	ENSP00000509545.1:p.Glu460=
ENST00000693181.1:c.213A>G	ENSP00000510179.1:p.Glu71=
ENST00000256190.13:c.1509A>G MANE Select	ENSP00000256190.8:p.Glu503=
ENST00000675281.1:c.1509A>G	ENSP00000502491.1:p.Glu503=
ENST00000676324.1:c.1509A>G	ENSP00000502578.1:p.Glu503=
ENST00000676387.1:c.1395A>G	ENSP00000502779.1:p.Glu465=
ENST00000256190.12:c.1509A>G	ENSP00000256190.8:p.Glu503=
ENST00000420722.2:c.328A>G
ENST00000533770.5:n.1424A>G
ENST00000617179.4:c.1368A>G	ENSP00000482806.1:p.Glu456=
NM_030962.3:c.1509A>G , LRG_267t1:c.1509A>G	NP_112224.1:p.Glu503=
XM_005253154.3:c.1509A>G	XP_005253211.1:p.Glu503=
XM_005253155.3:c.1380A>G	XP_005253212.1:p.Glu460=
XM_011520394.1:c.1395A>G	XP_011518696.1:p.Glu465=
XM_011520395.1:c.1509A>G	XP_011518697.1:p.Glu503=
XM_011520396.1:c.1509A>G	XP_011518698.1:p.Glu503=
XM_005253154.5:c.1509A>G	XP_005253211.1:p.Glu503=
XM_005253155.5:c.1380A>G	XP_005253212.1:p.Glu460=
XM_011520394.3:c.1395A>G	XP_011518696.1:p.Glu465=
XM_011520395.3:c.1509A>G	XP_011518697.1:p.Glu503=
XM_011520396.3:c.1509A>G	XP_011518698.1:p.Glu503=
XM_017018372.2:c.1371A>G	XP_016873861.1:p.Glu457=
XM_017018373.2:c.1371A>G	XP_016873862.1:p.Glu457=
XM_017018374.2:c.1380A>G	XP_016873863.1:p.Glu460=
XM_017018375.2:c.1509A>G	XP_016873864.1:p.Glu503=
XM_017018376.2:c.1509A>G	XP_016873865.1:p.Glu503=
XM_017018377.2:c.1509A>G	XP_016873866.1:p.Glu503=
XR_001747994.2:n.1647A>G
NM_001386339.1:c.1509A>G	NP_001373268.1:p.Glu503=
NM_001386342.1:c.1380A>G	NP_001373271.1:p.Glu460=
NM_030962.4:c.1509A>G MANE Select	NP_112224.1:p.Glu503=