Canonical Allele Identifier: CA379631494
Community Standard Title: NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter)
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9785153G>A , CM000673.2:g.9785153G>A GRCh38
NC_000011.9:g.9806700G>A , CM000673.1:g.9806700G>A GRCh37
NC_000011.8:g.9763276G>A NCBI36
NG_008074.1:g.514055C>T , LRG_267:g.514055C>T

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.5203C>T (SBF2) MANE Select NP_112224.1:p.Gln1735Ter
ENST00000256190.13:c.5203C>T (SBF2) MANE Select ENSP00000256190.8:p.Gln1735Ter
NM_001386339.1:c.5299C>T (SBF2) NP_001373268.1:p.Gln1767Ter
NM_001386342.1:c.5074C>T (SBF2) NP_001373271.1:p.Gln1692Ter
NM_030962.3:c.5203C>T , LRG_267t1:c.5203C>T (SBF2) NP_112224.1:p.Gln1735Ter
NR_036485.1:n.212-22695G>A (SBF2-AS1)
ENST00000256190.12:c.5203C>T (SBF2) ENSP00000256190.8:p.Gln1735Ter
ENST00000524961.6:n.1687C>T (SBF2)
ENST00000525040.5:n.506C>T (SBF2)
ENST00000529587.1:n.197C>T (SBF2)
ENST00000529587.2:n.197C>T (SBF2)
ENST00000532095.1:c.367C>T (SBF2) ENSP00000434620.1:p.Gln123Ter
ENST00000532095.2:n.1739C>T (SBF2)
ENST00000617179.4:c.5062C>T (SBF2) ENSP00000482806.1:p.Gln1688Ter
ENST00000675281.1:c.5278C>T (SBF2) ENSP00000502491.1:p.Gln1760Ter
ENST00000675281.2:c.5278C>T (SBF2) ENSP00000502491.1:p.Gln1760Ter
ENST00000676324.1:c.*1511C>T (SBF2) ENSP00000502578.1:n.*1511C>T
ENST00000676324.2:c.*1511C>T (SBF2) ENSP00000502578.1:n.*1511C>T
ENST00000676387.1:c.5260C>T (SBF2) ENSP00000502779.1:p.Gln1754Ter
ENST00000676387.2:c.5260C>T (SBF2) ENSP00000502779.1:p.Gln1754Ter
ENST00000688344.1:c.4810C>T (SBF2) ENSP00000509987.1:p.Gln1604Ter
ENST00000689128.1:c.5299C>T (SBF2) ENSP00000509587.1:p.Gln1767Ter
ENST00000689258.1:c.5140C>T (SBF2) ENSP00000510475.1:p.Gln1714Ter
ENST00000689342.1:c.1369C>T (SBF2)
ENST00000689356.1:n.2374C>T (SBF2)
ENST00000689597.1:c.3907C>T (SBF2) ENSP00000510781.1:p.Gln1303Ter
ENST00000689940.1:c.5197C>T (SBF2) ENSP00000508452.1:p.Gln1733Ter
ENST00000690944.1:c.1283C>T (SBF2)
ENST00000691616.1:n.1679C>T (SBF2)
ENST00000692716.1:c.5074C>T (SBF2) ENSP00000509545.1:p.Gln1692Ter
ENST00000693541.1:n.2122C>T (SBF2)
XM_005253154.3:c.5299C>T (SBF2) XP_005253211.1:p.Gln1767Ter
XM_005253154.5:c.5299C>T (SBF2) XP_005253211.1:p.Gln1767Ter
XM_005253155.3:c.5170C>T (SBF2) XP_005253212.1:p.Gln1724Ter
XM_005253155.5:c.5170C>T (SBF2) XP_005253212.1:p.Gln1724Ter
XM_011520394.1:c.5185C>T (SBF2) XP_011518696.1:p.Gln1729Ter
XM_011520394.3:c.5185C>T (SBF2) XP_011518696.1:p.Gln1729Ter
XM_017018372.2:c.5161C>T (SBF2) XP_016873861.1:p.Gln1721Ter
XM_017018373.2:c.5161C>T (SBF2) XP_016873862.1:p.Gln1721Ter
XM_017018374.2:c.5074C>T (SBF2) XP_016873863.1:p.Gln1692Ter
XM_017018375.2:c.5062C>T (SBF2) XP_016873864.1:p.Gln1688Ter
XR_001747994.2:n.5310C>T (SBF2)
XR_931024.1:n.455+377G>A
XR_931025.1:n.270+2044G>A