Canonical Allele Identifier: CA379633208
Community Standard Title: NM_030962.4(SBF2):c.4933-1G>A
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9787739C>T , CM000673.2:g.9787739C>T GRCh38
NC_000011.9:g.9809286C>T , CM000673.1:g.9809286C>T GRCh37
NC_000011.8:g.9765862C>T NCBI36
NG_008074.1:g.511469G>A , LRG_267:g.511469G>A

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.4933-1G>A (SBF2) MANE Select NP_112224.1:n.4933-1G>A
ENST00000256190.13:c.4933-1G>A (SBF2) MANE Select ENSP00000256190.8:n.4933-1G>A
NM_001386339.1:c.5029-1G>A (SBF2) NP_001373268.1:n.5029-1G>A
NM_001386342.1:c.4804-1G>A (SBF2) NP_001373271.1:n.4804-1G>A
NM_030962.3:c.4933-1G>A , LRG_267t1:c.4933-1G>A (SBF2) NP_112224.1:n.4933-1G>A
NR_036485.1:n.212-20109C>T (SBF2-AS1)
ENST00000256190.12:c.4933-1G>A (SBF2) ENSP00000256190.8:n.4933-1G>A
ENST00000524961.6:n.1417-1G>A (SBF2)
ENST00000525040.5:n.235G>A (SBF2)
ENST00000532095.1:c.97-1G>A (SBF2) ENSP00000434620.1:n.97-1G>A
ENST00000532095.2:n.1469-1G>A (SBF2)
ENST00000617179.4:c.4792-1G>A (SBF2) ENSP00000482806.1:n.4792-1G>A
ENST00000675281.1:c.5008-1G>A (SBF2) ENSP00000502491.1:n.5008-1G>A
ENST00000675281.2:c.5008-1G>A (SBF2) ENSP00000502491.1:n.5008-1G>A
ENST00000676324.1:c.*1241-1G>A (SBF2) ENSP00000502578.1:n.*1241-1G>A
ENST00000676324.2:c.*1241-1G>A (SBF2) ENSP00000502578.1:n.*1241-1G>A
ENST00000676387.1:c.4990-1G>A (SBF2) ENSP00000502779.1:n.4990-1G>A
ENST00000676387.2:c.4990-1G>A (SBF2) ENSP00000502779.1:n.4990-1G>A
ENST00000688344.1:c.4540-1G>A (SBF2) ENSP00000509987.1:n.4540-1G>A
ENST00000689128.1:c.5029-1G>A (SBF2) ENSP00000509587.1:n.5029-1G>A
ENST00000689258.1:c.4870-1G>A (SBF2) ENSP00000510475.1:n.4870-1G>A
ENST00000689342.1:c.1099-1G>A (SBF2)
ENST00000689356.1:n.2104-1G>A (SBF2)
ENST00000689597.1:c.3637-1G>A (SBF2) ENSP00000510781.1:n.3637-1G>A
ENST00000689940.1:c.4927-1G>A (SBF2) ENSP00000508452.1:n.4927-1G>A
ENST00000690944.1:c.1013-1G>A (SBF2)
ENST00000691616.1:n.1409-1G>A (SBF2)
ENST00000692716.1:c.4804-1G>A (SBF2) ENSP00000509545.1:n.4804-1G>A
ENST00000693541.1:n.1852-1G>A (SBF2)
XM_005253154.3:c.5029-1G>A (SBF2) XP_005253211.1:n.5029-1G>A
XM_005253154.5:c.5029-1G>A (SBF2) XP_005253211.1:n.5029-1G>A
XM_005253155.3:c.4900-1G>A (SBF2) XP_005253212.1:n.4900-1G>A
XM_005253155.5:c.4900-1G>A (SBF2) XP_005253212.1:n.4900-1G>A
XM_011520394.1:c.4915-1G>A (SBF2) XP_011518696.1:n.4915-1G>A
XM_011520394.3:c.4915-1G>A (SBF2) XP_011518696.1:n.4915-1G>A
XM_017018372.2:c.4891-1G>A (SBF2) XP_016873861.1:n.4891-1G>A
XM_017018373.2:c.4891-1G>A (SBF2) XP_016873862.1:n.4891-1G>A
XM_017018374.2:c.4804-1G>A (SBF2) XP_016873863.1:n.4804-1G>A
XM_017018375.2:c.4792-1G>A (SBF2) XP_016873864.1:n.4792-1G>A
XR_001747994.2:n.5040-1G>A (SBF2)
XR_931024.1:n.455+2963C>T
XR_931025.1:n.271-3130C>T