Canonical Allele Identifier: CA10631790

Gene: SBF2 SBF2-AS1

Linked Data

• ClinVar Variation Id: 306574
• ClinVar RCV Id: RCV000268409
• dbSNP Id: rs886048778
• MyVariant Identifiers: chr11:g.9802012C>T (hg19) ; chr11:g.9780465C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9780465C>T , CM000673.2:g.9780465C>T	GRCh38
NC_000011.9:g.9802012C>T , CM000673.1:g.9802012C>T	GRCh37
NC_000011.8:g.9758588C>T	NCBI36
NG_008074.1:g.518743G>A , LRG_267:g.518743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.1987G>A (SBF2)
ENST00000675281.2:c.5578G>A (SBF2)	ENSP00000502491.1:p.Ala1860Thr
ENST00000676324.2:c.*1811G>A (SBF2)	ENSP00000502578.1:n.*1811G>A
ENST00000676387.2:c.5560G>A (SBF2)	ENSP00000502779.1:p.Ala1854Thr
ENST00000688344.1:c.5110G>A (SBF2)	ENSP00000509987.1:p.Ala1704Thr
ENST00000689128.1:c.5599G>A (SBF2)	ENSP00000509587.1:p.Ala1867Thr
ENST00000689258.1:c.5440G>A (SBF2)	ENSP00000510475.1:p.Ala1814Thr
ENST00000689342.1:c.1669G>A (SBF2)
ENST00000689356.1:n.2674G>A (SBF2)
ENST00000689940.1:c.5497G>A (SBF2)	ENSP00000508452.1:p.Ala1833Thr
ENST00000690437.1:n.1452G>A (SBF2)
ENST00000690944.1:c.1583G>A (SBF2)
ENST00000691616.1:n.1979G>A (SBF2)
ENST00000692716.1:c.5374G>A (SBF2)	ENSP00000509545.1:p.Ala1792Thr
ENST00000693541.1:n.2422G>A (SBF2)
ENST00000256190.13:c.5503G>A (SBF2) MANE Select	ENSP00000256190.8:p.Ala1835Thr
ENST00000675281.1:c.5578G>A (SBF2)	ENSP00000502491.1:p.Ala1860Thr
ENST00000676324.1:c.*1811G>A (SBF2)	ENSP00000502578.1:n.*1811G>A
ENST00000676387.1:c.5560G>A (SBF2)	ENSP00000502779.1:p.Ala1854Thr
ENST00000256190.12:c.5503G>A (SBF2)	ENSP00000256190.8:p.Ala1835Thr
ENST00000525040.5:n.806G>A (SBF2)
ENST00000617179.4:c.5362G>A (SBF2)	ENSP00000482806.1:p.Ala1788Thr
NM_030962.3:c.5503G>A , LRG_267t1:c.5503G>A (SBF2)	NP_112224.1:p.Ala1835Thr
NR_036485.1:n.211+21962C>T (SBF2-AS1)
XM_005253154.3:c.5599G>A (SBF2)	XP_005253211.1:p.Ala1867Thr
XM_005253155.3:c.5470G>A (SBF2)	XP_005253212.1:p.Ala1824Thr
XM_011520394.1:c.5485G>A (SBF2)	XP_011518696.1:p.Ala1829Thr
XR_931024.1:n.90C>T
XR_931025.1:n.90C>T
XM_005253154.5:c.5599G>A (SBF2)	XP_005253211.1:p.Ala1867Thr
XM_005253155.5:c.5470G>A (SBF2)	XP_005253212.1:p.Ala1824Thr
XM_011520394.3:c.5485G>A (SBF2)	XP_011518696.1:p.Ala1829Thr
XM_017018372.2:c.5461G>A (SBF2)	XP_016873861.1:p.Ala1821Thr
XM_017018373.2:c.5461G>A (SBF2)	XP_016873862.1:p.Ala1821Thr
XM_017018374.2:c.5374G>A (SBF2)	XP_016873863.1:p.Ala1792Thr
XM_017018375.2:c.5362G>A (SBF2)	XP_016873864.1:p.Ala1788Thr
XR_001747994.2:n.5610G>A (SBF2)
XR_001748470.1:n.90C>T
NM_001386339.1:c.5599G>A (SBF2)	NP_001373268.1:p.Ala1867Thr
NM_001386342.1:c.5374G>A (SBF2)	NP_001373271.1:p.Ala1792Thr
NM_030962.4:c.5503G>A (SBF2) MANE Select	NP_112224.1:p.Ala1835Thr