Canonical Allele Identifier: CA16619420
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419286
dbSNP Id: rs1064793771

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9784415_9784416insATAA , CM000673.2:g.9784415_9784416insATAA GRCh38
NC_000011.9:g.9805962_9805963insATAA , CM000673.1:g.9805962_9805963insATAA GRCh37
NC_000011.8:g.9762538_9762539insATAA NCBI36
NG_008074.1:g.514792_514793insTTAT , LRG_267:g.514792_514793insTTAT

Transcript Alleles

HGVS Amino-acid change
ENST00000524961.6:n.1738_1739insTTAT (SBF2)
ENST00000529587.2:n.248_249insTTAT (SBF2)
ENST00000675281.2:c.5329_5330insTTAT (SBF2) ENSP00000502491.1:p.Lys1777IlefsTer28
ENST00000676324.2:c.*1562_*1563insTTAT (SBF2) ENSP00000502578.1:n.*1562_*1563insTTAT
ENST00000676387.2:c.5311_5312insTTAT (SBF2) ENSP00000502779.1:p.Lys1771IlefsTer28
ENST00000688344.1:c.4861_4862insTTAT (SBF2) ENSP00000509987.1:p.Lys1621IlefsTer28
ENST00000689128.1:c.5350_5351insTTAT (SBF2) ENSP00000509587.1:p.Lys1784IlefsTer28
ENST00000689258.1:c.5191_5192insTTAT (SBF2) ENSP00000510475.1:p.Lys1731IlefsTer28
ENST00000689342.1:c.1420_1421insTTAT (SBF2)
ENST00000689356.1:n.2425_2426insTTAT (SBF2)
ENST00000689940.1:c.5248_5249insTTAT (SBF2) ENSP00000508452.1:p.Lys1750IlefsTer28
ENST00000690944.1:c.1334_1335insTTAT (SBF2)
ENST00000691616.1:n.1730_1731insTTAT (SBF2)
ENST00000692716.1:c.5125_5126insTTAT (SBF2) ENSP00000509545.1:p.Lys1709IlefsTer28
ENST00000693541.1:n.2173_2174insTTAT (SBF2)
ENST00000256190.13:c.5254_5255insTTAT (SBF2) MANE Select ENSP00000256190.8:p.Lys1752IlefsTer28
ENST00000675281.1:c.5329_5330insTTAT (SBF2) ENSP00000502491.1:p.Lys1777IlefsTer28
ENST00000676324.1:c.*1562_*1563insTTAT (SBF2) ENSP00000502578.1:n.*1562_*1563insTTAT
ENST00000676387.1:c.5311_5312insTTAT (SBF2) ENSP00000502779.1:p.Lys1771IlefsTer28
ENST00000256190.12:c.5254_5255insTTAT (SBF2) ENSP00000256190.8:p.Lys1752IlefsTer28
ENST00000525040.5:n.557_558insTTAT (SBF2)
ENST00000529587.1:n.248_249insTTAT (SBF2)
ENST00000617179.4:c.5113_5114insTTAT (SBF2) ENSP00000482806.1:p.Lys1705IlefsTer28
NM_030962.3:c.5254_5255insTTAT , LRG_267t1:c.5254_5255insTTAT (SBF2) NP_112224.1:p.Lys1752IlefsTer28
NR_036485.1:n.212-23433_212-23432insATAA (SBF2-AS1)
XM_005253154.3:c.5350_5351insTTAT (SBF2) XP_005253211.1:p.Lys1784IlefsTer28
XM_005253155.3:c.5221_5222insTTAT (SBF2) XP_005253212.1:p.Lys1741IlefsTer28
XM_011520394.1:c.5236_5237insTTAT (SBF2) XP_011518696.1:p.Lys1746IlefsTer28
XR_931024.1:n.271-177_271-176insATAA
XR_931025.1:n.270+1306_270+1307insATAA
XM_005253154.5:c.5350_5351insTTAT (SBF2) XP_005253211.1:p.Lys1784IlefsTer28
XM_005253155.5:c.5221_5222insTTAT (SBF2) XP_005253212.1:p.Lys1741IlefsTer28
XM_011520394.3:c.5236_5237insTTAT (SBF2) XP_011518696.1:p.Lys1746IlefsTer28
XM_017018372.2:c.5212_5213insTTAT (SBF2) XP_016873861.1:p.Lys1738IlefsTer28
XM_017018373.2:c.5212_5213insTTAT (SBF2) XP_016873862.1:p.Lys1738IlefsTer28
XM_017018374.2:c.5125_5126insTTAT (SBF2) XP_016873863.1:p.Lys1709IlefsTer28
XM_017018375.2:c.5113_5114insTTAT (SBF2) XP_016873864.1:p.Lys1705IlefsTer28
XR_001747994.2:n.5361_5362insTTAT (SBF2)
XR_001748470.1:n.271-177_271-176insATAA
XR_001748471.1:n.86-177_86-176insATAA
NM_001386339.1:c.5350_5351insTTAT (SBF2) NP_001373268.1:p.Lys1784IlefsTer28
NM_001386342.1:c.5125_5126insTTAT (SBF2) NP_001373271.1:p.Lys1709IlefsTer28
NM_030962.4:c.5254_5255insTTAT (SBF2) MANE Select NP_112224.1:p.Lys1752IlefsTer28