Canonical Allele Identifier: CA379643770
Community Standard Title: NM_030962.4(SBF2):c.620G>T (p.Gly207Val)
Gene: SBF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.10002689C>A , CM000673.2:g.10002689C>A GRCh38
NC_000011.9:g.10024236C>A , CM000673.1:g.10024236C>A GRCh37
NC_000011.8:g.9980812C>A NCBI36
NG_008074.1:g.296519G>T , LRG_267:g.296519G>T

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.620G>T MANE Select NP_112224.1:p.Gly207Val
ENST00000256190.13:c.620G>T MANE Select ENSP00000256190.8:p.Gly207Val
NM_001386339.1:c.620G>T NP_001373268.1:p.Gly207Val
NM_001386342.1:c.620G>T NP_001373271.1:p.Gly207Val
NM_030962.3:c.620G>T , LRG_267t1:c.620G>T NP_112224.1:p.Gly207Val
ENST00000256190.12:c.620G>T ENSP00000256190.8:p.Gly207Val
ENST00000526353.2:n.770G>T
ENST00000527019.5:n.567G>T
ENST00000527019.6:n.567G>T
ENST00000533770.5:n.535G>T
ENST00000533770.6:c.620G>T ENSP00000509247.1:p.Gly207Val
ENST00000617179.4:c.479G>T ENSP00000482806.1:p.Gly160Val
ENST00000675281.1:c.620G>T ENSP00000502491.1:p.Gly207Val
ENST00000675281.2:c.620G>T ENSP00000502491.1:p.Gly207Val
ENST00000676324.1:c.620G>T ENSP00000502578.1:p.Gly207Val
ENST00000676324.2:c.620G>T ENSP00000502578.1:p.Gly207Val
ENST00000676387.1:c.620G>T ENSP00000502779.1:p.Gly207Val
ENST00000676387.2:c.620G>T ENSP00000502779.1:p.Gly207Val
ENST00000687210.1:c.620G>T ENSP00000509480.1:p.Gly207Val
ENST00000688344.1:c.341G>T ENSP00000509987.1:p.Gly114Val
ENST00000688417.1:n.770G>T
ENST00000689128.1:c.620G>T ENSP00000509587.1:p.Gly207Val
ENST00000689258.1:c.482G>T ENSP00000510475.1:p.Gly161Val
ENST00000689940.1:c.620G>T ENSP00000508452.1:p.Gly207Val
ENST00000692716.1:c.620G>T ENSP00000509545.1:p.Gly207Val
ENST00000693022.1:c.620G>T ENSP00000508914.1:p.Gly207Val
ENST00000693201.1:c.*324G>T ENSP00000510346.1:n.*324G>T
XM_005253154.3:c.620G>T XP_005253211.1:p.Gly207Val
XM_005253154.5:c.620G>T XP_005253211.1:p.Gly207Val
XM_005253155.3:c.620G>T XP_005253212.1:p.Gly207Val
XM_005253155.5:c.620G>T XP_005253212.1:p.Gly207Val
XM_011520394.1:c.620G>T XP_011518696.1:p.Gly207Val
XM_011520394.3:c.620G>T XP_011518696.1:p.Gly207Val
XM_011520395.1:c.620G>T XP_011518697.1:p.Gly207Val
XM_011520395.3:c.620G>T XP_011518697.1:p.Gly207Val
XM_011520396.1:c.620G>T XP_011518698.1:p.Gly207Val
XM_011520396.3:c.620G>T XP_011518698.1:p.Gly207Val
XM_017018372.2:c.482G>T XP_016873861.1:p.Gly161Val
XM_017018373.2:c.482G>T XP_016873862.1:p.Gly161Val
XM_017018374.2:c.620G>T XP_016873863.1:p.Gly207Val
XM_017018375.2:c.620G>T XP_016873864.1:p.Gly207Val
XM_017018376.2:c.620G>T XP_016873865.1:p.Gly207Val
XM_017018377.2:c.620G>T XP_016873866.1:p.Gly207Val
XR_001747994.2:n.758G>T