Canonical Allele Identifier: CA379632522
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9787648G>A , CM000673.2:g.9787648G>A GRCh38
NC_000011.9:g.9809195G>A , CM000673.1:g.9809195G>A GRCh37
NC_000011.8:g.9765771G>A NCBI36
NG_008074.1:g.511560C>T , LRG_267:g.511560C>T

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.5023C>T (SBF2) MANE Select NP_112224.1:p.Pro1675Ser
ENST00000256190.13:c.5023C>T (SBF2) MANE Select ENSP00000256190.8:p.Pro1675Ser
NM_001386339.1:c.5119C>T (SBF2) NP_001373268.1:p.Pro1707Ser
NM_001386342.1:c.4894C>T (SBF2) NP_001373271.1:p.Pro1632Ser
NM_030962.3:c.5023C>T , LRG_267t1:c.5023C>T (SBF2) NP_112224.1:p.Pro1675Ser
NR_036485.1:n.212-20200G>A (SBF2-AS1)
ENST00000256190.12:c.5023C>T (SBF2) ENSP00000256190.8:p.Pro1675Ser
ENST00000524961.6:n.1507C>T (SBF2)
ENST00000525040.5:n.326C>T (SBF2)
ENST00000532095.1:c.187C>T (SBF2) ENSP00000434620.1:p.Pro63Ser
ENST00000532095.2:n.1559C>T (SBF2)
ENST00000617179.4:c.4882C>T (SBF2) ENSP00000482806.1:p.Pro1628Ser
ENST00000675281.1:c.5098C>T (SBF2) ENSP00000502491.1:p.Pro1700Ser
ENST00000675281.2:c.5098C>T (SBF2) ENSP00000502491.1:p.Pro1700Ser
ENST00000676324.1:c.*1331C>T (SBF2) ENSP00000502578.1:n.*1331C>T
ENST00000676324.2:c.*1331C>T (SBF2) ENSP00000502578.1:n.*1331C>T
ENST00000676387.1:c.5080C>T (SBF2) ENSP00000502779.1:p.Pro1694Ser
ENST00000676387.2:c.5080C>T (SBF2) ENSP00000502779.1:p.Pro1694Ser
ENST00000688344.1:c.4630C>T (SBF2) ENSP00000509987.1:p.Pro1544Ser
ENST00000689128.1:c.5119C>T (SBF2) ENSP00000509587.1:p.Pro1707Ser
ENST00000689258.1:c.4960C>T (SBF2) ENSP00000510475.1:p.Pro1654Ser
ENST00000689342.1:c.1189C>T (SBF2)
ENST00000689356.1:n.2194C>T (SBF2)
ENST00000689597.1:c.3727C>T (SBF2) ENSP00000510781.1:p.Pro1243Ser
ENST00000689940.1:c.5017C>T (SBF2) ENSP00000508452.1:p.Pro1673Ser
ENST00000690944.1:c.1103C>T (SBF2)
ENST00000691616.1:n.1499C>T (SBF2)
ENST00000692716.1:c.4894C>T (SBF2) ENSP00000509545.1:p.Pro1632Ser
ENST00000693541.1:n.1942C>T (SBF2)
XM_005253154.3:c.5119C>T (SBF2) XP_005253211.1:p.Pro1707Ser
XM_005253154.5:c.5119C>T (SBF2) XP_005253211.1:p.Pro1707Ser
XM_005253155.3:c.4990C>T (SBF2) XP_005253212.1:p.Pro1664Ser
XM_005253155.5:c.4990C>T (SBF2) XP_005253212.1:p.Pro1664Ser
XM_011520394.1:c.5005C>T (SBF2) XP_011518696.1:p.Pro1669Ser
XM_011520394.3:c.5005C>T (SBF2) XP_011518696.1:p.Pro1669Ser
XM_017018372.2:c.4981C>T (SBF2) XP_016873861.1:p.Pro1661Ser
XM_017018373.2:c.4981C>T (SBF2) XP_016873862.1:p.Pro1661Ser
XM_017018374.2:c.4894C>T (SBF2) XP_016873863.1:p.Pro1632Ser
XM_017018375.2:c.4882C>T (SBF2) XP_016873864.1:p.Pro1628Ser
XR_001747994.2:n.5130C>T (SBF2)
XR_931024.1:n.455+2872G>A
XR_931025.1:n.271-3221G>A