Canonical Allele Identifier: CA379642484
Community Standard Title: NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter)
Gene: SBF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9858375G>A , CM000673.2:g.9858375G>A GRCh38
NC_000011.9:g.9879922G>A , CM000673.1:g.9879922G>A GRCh37
NC_000011.8:g.9836498G>A NCBI36
NG_008074.1:g.440833C>T , LRG_267:g.440833C>T

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.1951C>T MANE Select NP_112224.1:p.Gln651Ter
ENST00000256190.13:c.1951C>T MANE Select ENSP00000256190.8:p.Gln651Ter
NM_001386339.1:c.1951C>T NP_001373268.1:p.Gln651Ter
NM_001386342.1:c.1822C>T NP_001373271.1:p.Gln608Ter
NM_030962.3:c.1951C>T , LRG_267t1:c.1951C>T NP_112224.1:p.Gln651Ter
NR_120539.1:n.135+19099G>A
ENST00000256190.12:c.1951C>T ENSP00000256190.8:p.Gln651Ter
ENST00000420722.2:c.770C>T
ENST00000420722.3:c.655C>T ENSP00000410478.3:p.Gln219Ter
ENST00000530741.2:c.655C>T ENSP00000432643.2:p.Gln219Ter
ENST00000533770.5:n.1866C>T
ENST00000533770.6:c.1951C>T ENSP00000509247.1:p.Gln651Ter
ENST00000617179.4:c.1810C>T ENSP00000482806.1:p.Gln604Ter
ENST00000675281.1:c.1951C>T ENSP00000502491.1:p.Gln651Ter
ENST00000675281.2:c.1951C>T ENSP00000502491.1:p.Gln651Ter
ENST00000676324.1:c.1951C>T ENSP00000502578.1:p.Gln651Ter
ENST00000676324.2:c.1951C>T ENSP00000502578.1:p.Gln651Ter
ENST00000676387.1:c.1837C>T ENSP00000502779.1:p.Gln613Ter
ENST00000676387.2:c.1837C>T ENSP00000502779.1:p.Gln613Ter
ENST00000687210.1:c.*573C>T ENSP00000509480.1:n.*573C>T
ENST00000688344.1:c.1558C>T ENSP00000509987.1:p.Gln520Ter
ENST00000688417.1:n.2101C>T
ENST00000689128.1:c.1951C>T ENSP00000509587.1:p.Gln651Ter
ENST00000689258.1:c.1813C>T ENSP00000510475.1:p.Gln605Ter
ENST00000689597.1:c.655C>T ENSP00000510781.1:p.Gln219Ter
ENST00000689674.1:c.655C>T ENSP00000510723.1:p.Gln219Ter
ENST00000689940.1:c.1951C>T ENSP00000508452.1:p.Gln651Ter
ENST00000690003.1:c.655C>T ENSP00000508748.1:p.Gln219Ter
ENST00000692716.1:c.1822C>T ENSP00000509545.1:p.Gln608Ter
ENST00000693181.1:c.655C>T ENSP00000510179.1:p.Gln219Ter
XM_005253154.3:c.1951C>T XP_005253211.1:p.Gln651Ter
XM_005253154.5:c.1951C>T XP_005253211.1:p.Gln651Ter
XM_005253155.3:c.1822C>T XP_005253212.1:p.Gln608Ter
XM_005253155.5:c.1822C>T XP_005253212.1:p.Gln608Ter
XM_011520394.1:c.1837C>T XP_011518696.1:p.Gln613Ter
XM_011520394.3:c.1837C>T XP_011518696.1:p.Gln613Ter
XM_011520395.1:c.1951C>T XP_011518697.1:p.Gln651Ter
XM_011520395.3:c.1951C>T XP_011518697.1:p.Gln651Ter
XM_011520396.1:c.1951C>T XP_011518698.1:p.Gln651Ter
XM_011520396.3:c.1951C>T XP_011518698.1:p.Gln651Ter
XM_017018372.2:c.1813C>T XP_016873861.1:p.Gln605Ter
XM_017018373.2:c.1813C>T XP_016873862.1:p.Gln605Ter
XM_017018374.2:c.1822C>T XP_016873863.1:p.Gln608Ter
XM_017018375.2:c.1951C>T XP_016873864.1:p.Gln651Ter
XM_017018376.2:c.1951C>T XP_016873865.1:p.Gln651Ter
XM_017018377.2:c.1951C>T XP_016873866.1:p.Gln651Ter
XR_001747994.2:n.2089C>T