Canonical Allele Identifier: CA5881810

Gene: SBF2

Linked Data

• ClinVar Variation Id: 306606
• ClinVar RCV Id: RCV000654076 ; RCV001172806 ; RCV001094221 ; RCV002392844
• dbSNP Id: rs139217120
• ExAC: 11:9989969 C / T
• gnomAD v2: 11-9989969-C-T
• gnomAD v3: 11-9968422-C-T
• gnomAD v4: 11-9968422-C-T
• MyVariant Identifiers: chr11:g.9989969C>T (hg19) ; chr11:g.9968422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9968422C>T , CM000673.2:g.9968422C>T	GRCh38
NC_000011.9:g.9989969C>T , CM000673.1:g.9989969C>T	GRCh37
NC_000011.8:g.9946545C>T	NCBI36
NG_008074.1:g.330786G>A , LRG_267:g.330786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420722.3:c.223G>A	ENSP00000410478.3:p.Glu75Lys
ENST00000526353.2:n.1669G>A
ENST00000530741.2:c.223G>A	ENSP00000432643.2:p.Glu75Lys
ENST00000533770.6:c.1519G>A	ENSP00000509247.1:p.Glu507Lys
ENST00000675281.2:c.1519G>A	ENSP00000502491.1:p.Glu507Lys
ENST00000676324.2:c.1519G>A	ENSP00000502578.1:p.Glu507Lys
ENST00000676387.2:c.1405G>A	ENSP00000502779.1:p.Glu469Lys
ENST00000687210.1:c.*141G>A	ENSP00000509480.1:n.*141G>A
ENST00000688344.1:c.1126G>A	ENSP00000509987.1:p.Glu376Lys
ENST00000688417.1:n.1669G>A
ENST00000689128.1:c.1519G>A	ENSP00000509587.1:p.Glu507Lys
ENST00000689258.1:c.1381G>A	ENSP00000510475.1:p.Glu461Lys
ENST00000689597.1:c.223G>A	ENSP00000510781.1:p.Glu75Lys
ENST00000689674.1:c.223G>A	ENSP00000510723.1:p.Glu75Lys
ENST00000689940.1:c.1519G>A	ENSP00000508452.1:p.Glu507Lys
ENST00000690003.1:c.223G>A	ENSP00000508748.1:p.Glu75Lys
ENST00000690234.1:c.227G>A	ENSP00000510288.1:n.227G>A
ENST00000692716.1:c.1390G>A	ENSP00000509545.1:p.Glu464Lys
ENST00000693181.1:c.223G>A	ENSP00000510179.1:p.Glu75Lys
ENST00000256190.13:c.1519G>A MANE Select	ENSP00000256190.8:p.Glu507Lys
ENST00000675281.1:c.1519G>A	ENSP00000502491.1:p.Glu507Lys
ENST00000676324.1:c.1519G>A	ENSP00000502578.1:p.Glu507Lys
ENST00000676387.1:c.1405G>A	ENSP00000502779.1:p.Glu469Lys
ENST00000256190.12:c.1519G>A	ENSP00000256190.8:p.Glu507Lys
ENST00000420722.2:c.338G>A
ENST00000533770.5:n.1434G>A
ENST00000617179.4:c.1378G>A	ENSP00000482806.1:p.Glu460Lys
NM_030962.3:c.1519G>A , LRG_267t1:c.1519G>A	NP_112224.1:p.Glu507Lys
XM_005253154.3:c.1519G>A	XP_005253211.1:p.Glu507Lys
XM_005253155.3:c.1390G>A	XP_005253212.1:p.Glu464Lys
XM_011520394.1:c.1405G>A	XP_011518696.1:p.Glu469Lys
XM_011520395.1:c.1519G>A	XP_011518697.1:p.Glu507Lys
XM_011520396.1:c.1519G>A	XP_011518698.1:p.Glu507Lys
XM_005253154.5:c.1519G>A	XP_005253211.1:p.Glu507Lys
XM_005253155.5:c.1390G>A	XP_005253212.1:p.Glu464Lys
XM_011520394.3:c.1405G>A	XP_011518696.1:p.Glu469Lys
XM_011520395.3:c.1519G>A	XP_011518697.1:p.Glu507Lys
XM_011520396.3:c.1519G>A	XP_011518698.1:p.Glu507Lys
XM_017018372.2:c.1381G>A	XP_016873861.1:p.Glu461Lys
XM_017018373.2:c.1381G>A	XP_016873862.1:p.Glu461Lys
XM_017018374.2:c.1390G>A	XP_016873863.1:p.Glu464Lys
XM_017018375.2:c.1519G>A	XP_016873864.1:p.Glu507Lys
XM_017018376.2:c.1519G>A	XP_016873865.1:p.Glu507Lys
XM_017018377.2:c.1519G>A	XP_016873866.1:p.Glu507Lys
XR_001747994.2:n.1657G>A
NM_001386339.1:c.1519G>A	NP_001373268.1:p.Glu507Lys
NM_001386342.1:c.1390G>A	NP_001373271.1:p.Glu464Lys
NM_030962.4:c.1519G>A MANE Select	NP_112224.1:p.Glu507Lys