Canonical Allele Identifier: CA115862
Gene: SBF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2910
ClinVar RCV Id: RCV000003044
dbSNP Id: rs120074137

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9847015G>A , CM000673.2:g.9847015G>A GRCh38
NC_000011.9:g.9868562G>A , CM000673.1:g.9868562G>A GRCh37
NC_000011.8:g.9825138G>A NCBI36
NG_008074.1:g.452193C>T , LRG_267:g.452193C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000420722.3:c.1579C>T ENSP00000410478.3:p.Gln527Ter
ENST00000530741.2:c.1579C>T ENSP00000432643.2:p.Gln527Ter
ENST00000533770.6:c.2875C>T ENSP00000509247.1:p.Gln959Ter
ENST00000675281.2:c.2875C>T ENSP00000502491.1:p.Gln959Ter
ENST00000676324.2:c.2875C>T ENSP00000502578.1:p.Gln959Ter
ENST00000676387.2:c.2761C>T ENSP00000502779.1:p.Gln921Ter
ENST00000688344.1:c.2482C>T ENSP00000509987.1:p.Gln828Ter
ENST00000689128.1:c.2875C>T ENSP00000509587.1:p.Gln959Ter
ENST00000689258.1:c.2737C>T ENSP00000510475.1:p.Gln913Ter
ENST00000689597.1:c.1579C>T ENSP00000510781.1:p.Gln527Ter
ENST00000689674.1:c.1579C>T ENSP00000510723.1:p.Gln527Ter
ENST00000689940.1:c.2869C>T ENSP00000508452.1:p.Gln957Ter
ENST00000690003.1:c.1579C>T ENSP00000508748.1:p.Gln527Ter
ENST00000692716.1:c.2746C>T ENSP00000509545.1:p.Gln916Ter
ENST00000693181.1:c.1579C>T ENSP00000510179.1:p.Gln527Ter
ENST00000256190.13:c.2875C>T MANE Select ENSP00000256190.8:p.Gln959Ter
ENST00000675281.1:c.2875C>T ENSP00000502491.1:p.Gln959Ter
ENST00000676324.1:c.2875C>T ENSP00000502578.1:p.Gln959Ter
ENST00000676387.1:c.2761C>T ENSP00000502779.1:p.Gln921Ter
ENST00000256190.12:c.2875C>T ENSP00000256190.8:p.Gln959Ter
ENST00000533770.5:n.2790C>T
ENST00000617179.4:c.2734C>T ENSP00000482806.1:p.Gln912Ter
NM_030962.3:c.2875C>T , LRG_267t1:c.2875C>T NP_112224.1:p.Gln959Ter
NR_120539.1:n.135+7739G>A
XM_005253154.3:c.2875C>T XP_005253211.1:p.Gln959Ter
XM_005253155.3:c.2746C>T XP_005253212.1:p.Gln916Ter
XM_011520394.1:c.2761C>T XP_011518696.1:p.Gln921Ter
XM_011520395.1:c.2875C>T XP_011518697.1:p.Gln959Ter
XM_011520396.1:c.2875C>T XP_011518698.1:p.Gln959Ter
XM_005253154.5:c.2875C>T XP_005253211.1:p.Gln959Ter
XM_005253155.5:c.2746C>T XP_005253212.1:p.Gln916Ter
XM_011520394.3:c.2761C>T XP_011518696.1:p.Gln921Ter
XM_011520395.3:c.2875C>T XP_011518697.1:p.Gln959Ter
XM_011520396.3:c.2875C>T XP_011518698.1:p.Gln959Ter
XM_017018372.2:c.2737C>T XP_016873861.1:p.Gln913Ter
XM_017018373.2:c.2737C>T XP_016873862.1:p.Gln913Ter
XM_017018374.2:c.2746C>T XP_016873863.1:p.Gln916Ter
XM_017018375.2:c.2875C>T XP_016873864.1:p.Gln959Ter
XM_017018376.2:c.2875C>T XP_016873865.1:p.Gln959Ter
XM_017018377.2:c.2875C>T XP_016873866.1:p.Gln959Ter
XR_001747994.2:n.3013C>T
NM_001386339.1:c.2875C>T NP_001373268.1:p.Gln959Ter
NM_001386342.1:c.2746C>T NP_001373271.1:p.Gln916Ter
NM_030962.4:c.2875C>T MANE Select NP_112224.1:p.Gln959Ter