Canonical Allele Identifier: CA379639771
Community Standard Title: NM_030962.4(SBF2):c.4363C>T (p.Gln1455Ter)
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9808080G>A , CM000673.2:g.9808080G>A GRCh38
NC_000011.9:g.9829627G>A , CM000673.1:g.9829627G>A GRCh37
NC_000011.8:g.9786203G>A NCBI36
NG_008074.1:g.491128C>T , LRG_267:g.491128C>T

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.4363C>T (SBF2) MANE Select NP_112224.1:p.Gln1455Ter
ENST00000256190.13:c.4363C>T (SBF2) MANE Select ENSP00000256190.8:p.Gln1455Ter
NM_001386339.1:c.4459C>T (SBF2) NP_001373268.1:p.Gln1487Ter
NM_001386342.1:c.4234C>T (SBF2) NP_001373271.1:p.Gln1412Ter
NM_030962.3:c.4363C>T , LRG_267t1:c.4363C>T (SBF2) NP_112224.1:p.Gln1455Ter
NR_036485.1:n.444G>A (SBF2-AS1)
ENST00000256190.12:c.4363C>T (SBF2) ENSP00000256190.8:p.Gln1455Ter
ENST00000524961.6:n.847C>T (SBF2)
ENST00000528478.1:n.431C>T (SBF2)
ENST00000530741.2:c.2926C>T (SBF2) ENSP00000432643.2:p.Gln976Ter
ENST00000532095.2:n.899C>T (SBF2)
ENST00000617179.4:c.4222C>T (SBF2) ENSP00000482806.1:p.Gln1408Ter
ENST00000675281.1:c.4438C>T (SBF2) ENSP00000502491.1:p.Gln1480Ter
ENST00000675281.2:c.4438C>T (SBF2) ENSP00000502491.1:p.Gln1480Ter
ENST00000676324.1:c.*671C>T (SBF2) ENSP00000502578.1:n.*671C>T
ENST00000676324.2:c.*671C>T (SBF2) ENSP00000502578.1:n.*671C>T
ENST00000676387.1:c.4420C>T (SBF2) ENSP00000502779.1:p.Gln1474Ter
ENST00000676387.2:c.4420C>T (SBF2) ENSP00000502779.1:p.Gln1474Ter
ENST00000688344.1:c.3970C>T (SBF2) ENSP00000509987.1:p.Gln1324Ter
ENST00000689128.1:c.4459C>T (SBF2) ENSP00000509587.1:p.Gln1487Ter
ENST00000689258.1:c.4300C>T (SBF2) ENSP00000510475.1:p.Gln1434Ter
ENST00000689342.1:c.529C>T (SBF2)
ENST00000689356.1:n.1534C>T (SBF2)
ENST00000689597.1:c.3067C>T (SBF2) ENSP00000510781.1:p.Gln1023Ter
ENST00000689940.1:c.4357C>T (SBF2) ENSP00000508452.1:p.Gln1453Ter
ENST00000690944.1:c.570C>T (SBF2)
ENST00000691616.1:n.839C>T (SBF2)
ENST00000692716.1:c.4234C>T (SBF2) ENSP00000509545.1:p.Gln1412Ter
ENST00000693541.1:n.1282C>T (SBF2)
XM_005253154.3:c.4459C>T (SBF2) XP_005253211.1:p.Gln1487Ter
XM_005253154.5:c.4459C>T (SBF2) XP_005253211.1:p.Gln1487Ter
XM_005253155.3:c.4330C>T (SBF2) XP_005253212.1:p.Gln1444Ter
XM_005253155.5:c.4330C>T (SBF2) XP_005253212.1:p.Gln1444Ter
XM_011520394.1:c.4345C>T (SBF2) XP_011518696.1:p.Gln1449Ter
XM_011520394.3:c.4345C>T (SBF2) XP_011518696.1:p.Gln1449Ter
XM_017018372.2:c.4321C>T (SBF2) XP_016873861.1:p.Gln1441Ter
XM_017018373.2:c.4321C>T (SBF2) XP_016873862.1:p.Gln1441Ter
XM_017018374.2:c.4234C>T (SBF2) XP_016873863.1:p.Gln1412Ter
XM_017018375.2:c.4222C>T (SBF2) XP_016873864.1:p.Gln1408Ter
XR_001747994.2:n.4597C>T (SBF2)