Canonical Allele Identifier: CA473055076
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9785217C>T , CM000673.2:g.9785217C>T GRCh38
NC_000011.9:g.9806764C>T , CM000673.1:g.9806764C>T GRCh37
NC_000011.8:g.9763340C>T NCBI36
NG_008074.1:g.513991G>A , LRG_267:g.513991G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524961.6:n.1623G>A (SBF2)
ENST00000529587.2:n.133G>A (SBF2)
ENST00000532095.2:n.1675G>A (SBF2)
ENST00000675281.2:c.5214G>A (SBF2) ENSP00000502491.1:p.Glu1738=
ENST00000676324.2:c.*1447G>A (SBF2) ENSP00000502578.1:n.*1447G>A
ENST00000676387.2:c.5196G>A (SBF2) ENSP00000502779.1:p.Glu1732=
ENST00000688344.1:c.4746G>A (SBF2) ENSP00000509987.1:p.Glu1582=
ENST00000689128.1:c.5235G>A (SBF2) ENSP00000509587.1:p.Glu1745=
ENST00000689258.1:c.5076G>A (SBF2) ENSP00000510475.1:p.Glu1692=
ENST00000689342.1:c.1305G>A (SBF2)
ENST00000689356.1:n.2310G>A (SBF2)
ENST00000689597.1:c.3843G>A (SBF2) ENSP00000510781.1:p.Glu1281=
ENST00000689940.1:c.5133G>A (SBF2) ENSP00000508452.1:p.Glu1711=
ENST00000690944.1:c.1219G>A (SBF2)
ENST00000691616.1:n.1615G>A (SBF2)
ENST00000692716.1:c.5010G>A (SBF2) ENSP00000509545.1:p.Glu1670=
ENST00000693541.1:n.2058G>A (SBF2)
ENST00000256190.13:c.5139G>A (SBF2) MANE Select ENSP00000256190.8:p.Glu1713=
ENST00000675281.1:c.5214G>A (SBF2) ENSP00000502491.1:p.Glu1738=
ENST00000676324.1:c.*1447G>A (SBF2) ENSP00000502578.1:n.*1447G>A
ENST00000676387.1:c.5196G>A (SBF2) ENSP00000502779.1:p.Glu1732=
ENST00000256190.12:c.5139G>A (SBF2) ENSP00000256190.8:p.Glu1713=
ENST00000525040.5:n.442G>A (SBF2)
ENST00000529587.1:n.133G>A (SBF2)
ENST00000532095.1:c.303G>A (SBF2) ENSP00000434620.1:p.Glu101=
ENST00000617179.4:c.4998G>A (SBF2) ENSP00000482806.1:p.Glu1666=
NM_030962.3:c.5139G>A , LRG_267t1:c.5139G>A (SBF2) NP_112224.1:p.Glu1713=
NR_036485.1:n.212-22631C>T (SBF2-AS1)
XM_005253154.3:c.5235G>A (SBF2) XP_005253211.1:p.Glu1745=
XM_005253155.3:c.5106G>A (SBF2) XP_005253212.1:p.Glu1702=
XM_011520394.1:c.5121G>A (SBF2) XP_011518696.1:p.Glu1707=
XR_931024.1:n.455+441C>T
XR_931025.1:n.270+2108C>T
XM_005253154.5:c.5235G>A (SBF2) XP_005253211.1:p.Glu1745=
XM_005253155.5:c.5106G>A (SBF2) XP_005253212.1:p.Glu1702=
XM_011520394.3:c.5121G>A (SBF2) XP_011518696.1:p.Glu1707=
XM_017018372.2:c.5097G>A (SBF2) XP_016873861.1:p.Glu1699=
XM_017018373.2:c.5097G>A (SBF2) XP_016873862.1:p.Glu1699=
XM_017018374.2:c.5010G>A (SBF2) XP_016873863.1:p.Glu1670=
XM_017018375.2:c.4998G>A (SBF2) XP_016873864.1:p.Glu1666=
XR_001747994.2:n.5246G>A (SBF2)
NM_001386339.1:c.5235G>A (SBF2) NP_001373268.1:p.Glu1745=
NM_001386342.1:c.5010G>A (SBF2) NP_001373271.1:p.Glu1670=
NM_030962.4:c.5139G>A (SBF2) MANE Select NP_112224.1:p.Glu1713=