Canonical Allele Identifier: CA1951771653
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2148968
ClinVar RCV Id: RCV003063661
dbSNP Id: rs1852234615

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9784442G>C , CM000673.2:g.9784442G>C GRCh38
NC_000011.9:g.9805989G>C , CM000673.1:g.9805989G>C GRCh37
NC_000011.8:g.9762565G>C NCBI36
NG_008074.1:g.514766C>G , LRG_267:g.514766C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524961.6:n.1716-4C>G (SBF2)
ENST00000529587.2:n.226-4C>G (SBF2)
ENST00000675281.2:c.5307-4C>G (SBF2) ENSP00000502491.1:n.5307-4C>G
ENST00000676324.2:c.*1540-4C>G (SBF2) ENSP00000502578.1:n.*1540-4C>G
ENST00000676387.2:c.5289-4C>G (SBF2) ENSP00000502779.1:n.5289-4C>G
ENST00000688344.1:c.4839-4C>G (SBF2) ENSP00000509987.1:n.4839-4C>G
ENST00000689128.1:c.5328-4C>G (SBF2) ENSP00000509587.1:n.5328-4C>G
ENST00000689258.1:c.5169-4C>G (SBF2) ENSP00000510475.1:n.5169-4C>G
ENST00000689342.1:c.1398-4C>G (SBF2)
ENST00000689356.1:n.2403-4C>G (SBF2)
ENST00000689940.1:c.5226-4C>G (SBF2) ENSP00000508452.1:n.5226-4C>G
ENST00000690944.1:c.1312-4C>G (SBF2)
ENST00000691616.1:n.1708-4C>G (SBF2)
ENST00000692716.1:c.5103-4C>G (SBF2) ENSP00000509545.1:n.5103-4C>G
ENST00000693541.1:n.2151-4C>G (SBF2)
ENST00000256190.13:c.5232-4C>G (SBF2) MANE Select ENSP00000256190.8:n.5232-4C>G
ENST00000675281.1:c.5307-4C>G (SBF2) ENSP00000502491.1:n.5307-4C>G
ENST00000676324.1:c.*1540-4C>G (SBF2) ENSP00000502578.1:n.*1540-4C>G
ENST00000676387.1:c.5289-4C>G (SBF2) ENSP00000502779.1:n.5289-4C>G
ENST00000256190.12:c.5232-4C>G (SBF2) ENSP00000256190.8:n.5232-4C>G
ENST00000525040.5:n.535-4C>G (SBF2)
ENST00000529587.1:n.226-4C>G (SBF2)
ENST00000617179.4:c.5091-4C>G (SBF2) ENSP00000482806.1:n.5091-4C>G
NM_030962.3:c.5232-4C>G , LRG_267t1:c.5232-4C>G (SBF2) NP_112224.1:n.5232-4C>G
NR_036485.1:n.212-23406G>C (SBF2-AS1)
XM_005253154.3:c.5328-4C>G (SBF2) XP_005253211.1:n.5328-4C>G
XM_005253155.3:c.5199-4C>G (SBF2) XP_005253212.1:n.5199-4C>G
XM_011520394.1:c.5214-4C>G (SBF2) XP_011518696.1:n.5214-4C>G
XR_931024.1:n.271-150G>C
XR_931025.1:n.270+1333G>C
XM_005253154.5:c.5328-4C>G (SBF2) XP_005253211.1:n.5328-4C>G
XM_005253155.5:c.5199-4C>G (SBF2) XP_005253212.1:n.5199-4C>G
XM_011520394.3:c.5214-4C>G (SBF2) XP_011518696.1:n.5214-4C>G
XM_017018372.2:c.5190-4C>G (SBF2) XP_016873861.1:n.5190-4C>G
XM_017018373.2:c.5190-4C>G (SBF2) XP_016873862.1:n.5190-4C>G
XM_017018374.2:c.5103-4C>G (SBF2) XP_016873863.1:n.5103-4C>G
XM_017018375.2:c.5091-4C>G (SBF2) XP_016873864.1:n.5091-4C>G
XR_001747994.2:n.5339-4C>G (SBF2)
XR_001748470.1:n.271-150G>C
XR_001748471.1:n.86-150G>C
NM_001386339.1:c.5328-4C>G (SBF2) NP_001373268.1:n.5328-4C>G
NM_001386342.1:c.5103-4C>G (SBF2) NP_001373271.1:n.5103-4C>G
NM_030962.4:c.5232-4C>G (SBF2) MANE Select NP_112224.1:n.5232-4C>G