Canonical Allele Identifier: CA379645468

Gene: SBF2

Linked Data

• ClinVar Variation Id: 961464
• ClinVar RCV Id: RCV001235158
• dbSNP Id: rs1855445153
• MyVariant Identifiers: chr11:g.9853779G>C (hg19) ; chr11:g.9832232G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9832232G>C , CM000673.2:g.9832232G>C	GRCh38
NC_000011.9:g.9853779G>C , CM000673.1:g.9853779G>C	GRCh37
NC_000011.8:g.9810355G>C	NCBI36
NG_008074.1:g.466976C>G , LRG_267:g.466976C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000530741.2:c.2348C>G	ENSP00000432643.2:p.Pro783Arg
ENST00000675281.2:c.3644C>G	ENSP00000502491.1:p.Pro1215Arg
ENST00000676324.2:c.3644C>G	ENSP00000502578.1:p.Pro1215Arg
ENST00000676387.2:c.3530C>G	ENSP00000502779.1:p.Pro1177Arg
ENST00000688344.1:c.3251C>G	ENSP00000509987.1:p.Pro1084Arg
ENST00000689128.1:c.3644C>G	ENSP00000509587.1:p.Pro1215Arg
ENST00000689258.1:c.3506C>G	ENSP00000510475.1:p.Pro1169Arg
ENST00000689356.1:n.815C>G
ENST00000689597.1:c.2348C>G	ENSP00000510781.1:p.Pro783Arg
ENST00000689674.1:c.2538C>G	ENSP00000510723.1:n.2538C>G
ENST00000689940.1:c.3638C>G	ENSP00000508452.1:p.Pro1213Arg
ENST00000690003.1:c.2443C>G	ENSP00000508748.1:n.2443C>G
ENST00000692716.1:c.3515C>G	ENSP00000509545.1:p.Pro1172Arg
ENST00000693181.1:c.2473C>G	ENSP00000510179.1:n.2473C>G
ENST00000256190.13:c.3644C>G MANE Select	ENSP00000256190.8:p.Pro1215Arg
ENST00000675281.1:c.3644C>G	ENSP00000502491.1:p.Pro1215Arg
ENST00000676324.1:c.3644C>G	ENSP00000502578.1:p.Pro1215Arg
ENST00000676387.1:c.3530C>G	ENSP00000502779.1:p.Pro1177Arg
ENST00000256190.12:c.3644C>G	ENSP00000256190.8:p.Pro1215Arg
ENST00000530741.1:c.295C>G
ENST00000617179.4:c.3503C>G	ENSP00000482806.1:p.Pro1168Arg
NM_030962.3:c.3644C>G , LRG_267t1:c.3644C>G	NP_112224.1:p.Pro1215Arg
XM_005253154.3:c.3644C>G	XP_005253211.1:p.Pro1215Arg
XM_005253155.3:c.3515C>G	XP_005253212.1:p.Pro1172Arg
XM_011520394.1:c.3530C>G	XP_011518696.1:p.Pro1177Arg
XM_011520395.1:c.3644C>G	XP_011518697.1:p.Pro1215Arg
XM_005253154.5:c.3644C>G	XP_005253211.1:p.Pro1215Arg
XM_005253155.5:c.3515C>G	XP_005253212.1:p.Pro1172Arg
XM_011520394.3:c.3530C>G	XP_011518696.1:p.Pro1177Arg
XM_011520395.3:c.3644C>G	XP_011518697.1:p.Pro1215Arg
XM_017018372.2:c.3506C>G	XP_016873861.1:p.Pro1169Arg
XM_017018373.2:c.3506C>G	XP_016873862.1:p.Pro1169Arg
XM_017018374.2:c.3515C>G	XP_016873863.1:p.Pro1172Arg
XM_017018375.2:c.3644C>G	XP_016873864.1:p.Pro1215Arg
XM_017018376.2:c.3644C>G	XP_016873865.1:p.Pro1215Arg
XR_001747994.2:n.3782C>G
NM_001386339.1:c.3644C>G	NP_001373268.1:p.Pro1215Arg
NM_001386342.1:c.3515C>G	NP_001373271.1:p.Pro1172Arg
NM_030962.4:c.3644C>G MANE Select	NP_112224.1:p.Pro1215Arg