Canonical Allele Identifier: CA10604738
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284267
ClinVar RCV Id: RCV000336058
dbSNP Id: rs886042830
MyVariant Identifiers: chr11:g.9803052A>C (hg19) chr11:g.9781505A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9781505A>C , CM000673.2:g.9781505A>C GRCh38
NC_000011.9:g.9803052A>C , CM000673.1:g.9803052A>C GRCh37
NC_000011.8:g.9759628A>C NCBI36
NG_008074.1:g.517703T>G , LRG_267:g.517703T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000524961.6:n.1935+2T>G (SBF2)
ENST00000675281.2:c.5526+2T>G (SBF2) ENSP00000502491.1:n.5526+2T>G
ENST00000676324.2:c.*1759+2T>G (SBF2) ENSP00000502578.1:n.*1759+2T>G
ENST00000676387.2:c.5508+2T>G (SBF2) ENSP00000502779.1:n.5508+2T>G
ENST00000688344.1:c.5058+2T>G (SBF2) ENSP00000509987.1:n.5058+2T>G
ENST00000689128.1:c.5547+2T>G (SBF2) ENSP00000509587.1:n.5547+2T>G
ENST00000689258.1:c.5388+2T>G (SBF2) ENSP00000510475.1:n.5388+2T>G
ENST00000689342.1:c.1617+2T>G (SBF2)
ENST00000689356.1:n.2622+2T>G (SBF2)
ENST00000689940.1:c.5445+2T>G (SBF2) ENSP00000508452.1:n.5445+2T>G
ENST00000690437.1:n.1400+2T>G (SBF2)
ENST00000690944.1:c.1531+2T>G (SBF2)
ENST00000691616.1:n.1927+2T>G (SBF2)
ENST00000692716.1:c.5322+2T>G (SBF2) ENSP00000509545.1:n.5322+2T>G
ENST00000693541.1:n.2370+2T>G (SBF2)
ENST00000256190.13:c.5451+2T>G (SBF2) MANE Select ENSP00000256190.8:n.5451+2T>G
ENST00000675281.1:c.5526+2T>G (SBF2) ENSP00000502491.1:n.5526+2T>G
ENST00000676324.1:c.*1759+2T>G (SBF2) ENSP00000502578.1:n.*1759+2T>G
ENST00000676387.1:c.5508+2T>G (SBF2) ENSP00000502779.1:n.5508+2T>G
ENST00000256190.12:c.5451+2T>G (SBF2) ENSP00000256190.8:n.5451+2T>G
ENST00000525040.5:n.754+2T>G (SBF2)
ENST00000617179.4:c.5310+2T>G (SBF2) ENSP00000482806.1:n.5310+2T>G
NM_030962.3:c.5451+2T>G , LRG_267t1:c.5451+2T>G (SBF2) NP_112224.1:n.5451+2T>G
NR_036485.1:n.211+23002A>C (SBF2-AS1)
XM_005253154.3:c.5547+2T>G (SBF2) XP_005253211.1:n.5547+2T>G
XM_005253155.3:c.5418+2T>G (SBF2) XP_005253212.1:n.5418+2T>G
XM_011520394.1:c.5433+2T>G (SBF2) XP_011518696.1:n.5433+2T>G
XR_931024.1:n.200+930A>C
XR_931025.1:n.200+930A>C
XM_005253154.5:c.5547+2T>G (SBF2) XP_005253211.1:n.5547+2T>G
XM_005253155.5:c.5418+2T>G (SBF2) XP_005253212.1:n.5418+2T>G
XM_011520394.3:c.5433+2T>G (SBF2) XP_011518696.1:n.5433+2T>G
XM_017018372.2:c.5409+2T>G (SBF2) XP_016873861.1:n.5409+2T>G
XM_017018373.2:c.5409+2T>G (SBF2) XP_016873862.1:n.5409+2T>G
XM_017018374.2:c.5322+2T>G (SBF2) XP_016873863.1:n.5322+2T>G
XM_017018375.2:c.5310+2T>G (SBF2) XP_016873864.1:n.5310+2T>G
XR_001747994.2:n.5558+2T>G (SBF2)
XR_001748470.1:n.200+930A>C
XR_001748471.1:n.85+930A>C
NM_001386339.1:c.5547+2T>G (SBF2) NP_001373268.1:n.5547+2T>G
NM_001386342.1:c.5322+2T>G (SBF2) NP_001373271.1:n.5322+2T>G
NM_030962.4:c.5451+2T>G (SBF2) MANE Select NP_112224.1:n.5451+2T>G
Search 100 bp 5'
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