Canonical Allele Identifier: CA379630323
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9781570C>G , CM000673.2:g.9781570C>G GRCh38
NC_000011.9:g.9803117C>G , CM000673.1:g.9803117C>G GRCh37
NC_000011.8:g.9759693C>G NCBI36
NG_008074.1:g.517638G>C , LRG_267:g.517638G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524961.6:n.1872G>C (SBF2)
ENST00000529587.2:n.382G>C (SBF2)
ENST00000675281.2:c.5463G>C (SBF2) ENSP00000502491.1:p.Met1821Ile
ENST00000676324.2:c.*1696G>C (SBF2) ENSP00000502578.1:n.*1696G>C
ENST00000676387.2:c.5445G>C (SBF2) ENSP00000502779.1:p.Met1815Ile
ENST00000688344.1:c.4995G>C (SBF2) ENSP00000509987.1:p.Met1665Ile
ENST00000689128.1:c.5484G>C (SBF2) ENSP00000509587.1:p.Met1828Ile
ENST00000689258.1:c.5325G>C (SBF2) ENSP00000510475.1:p.Met1775Ile
ENST00000689342.1:c.1554G>C (SBF2)
ENST00000689356.1:n.2559G>C (SBF2)
ENST00000689940.1:c.5382G>C (SBF2) ENSP00000508452.1:p.Met1794Ile
ENST00000690437.1:n.1337G>C (SBF2)
ENST00000690944.1:c.1468G>C (SBF2)
ENST00000691616.1:n.1864G>C (SBF2)
ENST00000692716.1:c.5259G>C (SBF2) ENSP00000509545.1:p.Met1753Ile
ENST00000693541.1:n.2307G>C (SBF2)
ENST00000256190.13:c.5388G>C (SBF2) MANE Select ENSP00000256190.8:p.Met1796Ile
ENST00000675281.1:c.5463G>C (SBF2) ENSP00000502491.1:p.Met1821Ile
ENST00000676324.1:c.*1696G>C (SBF2) ENSP00000502578.1:n.*1696G>C
ENST00000676387.1:c.5445G>C (SBF2) ENSP00000502779.1:p.Met1815Ile
ENST00000256190.12:c.5388G>C (SBF2) ENSP00000256190.8:p.Met1796Ile
ENST00000525040.5:n.691G>C (SBF2)
ENST00000529587.1:n.382G>C (SBF2)
ENST00000617179.4:c.5247G>C (SBF2) ENSP00000482806.1:p.Met1749Ile
NM_030962.3:c.5388G>C , LRG_267t1:c.5388G>C (SBF2) NP_112224.1:p.Met1796Ile
NR_036485.1:n.211+23067C>G (SBF2-AS1)
XM_005253154.3:c.5484G>C (SBF2) XP_005253211.1:p.Met1828Ile
XM_005253155.3:c.5355G>C (SBF2) XP_005253212.1:p.Met1785Ile
XM_011520394.1:c.5370G>C (SBF2) XP_011518696.1:p.Met1790Ile
XR_931024.1:n.200+995C>G
XR_931025.1:n.200+995C>G
XM_005253154.5:c.5484G>C (SBF2) XP_005253211.1:p.Met1828Ile
XM_005253155.5:c.5355G>C (SBF2) XP_005253212.1:p.Met1785Ile
XM_011520394.3:c.5370G>C (SBF2) XP_011518696.1:p.Met1790Ile
XM_017018372.2:c.5346G>C (SBF2) XP_016873861.1:p.Met1782Ile
XM_017018373.2:c.5346G>C (SBF2) XP_016873862.1:p.Met1782Ile
XM_017018374.2:c.5259G>C (SBF2) XP_016873863.1:p.Met1753Ile
XM_017018375.2:c.5247G>C (SBF2) XP_016873864.1:p.Met1749Ile
XR_001747994.2:n.5495G>C (SBF2)
XR_001748470.1:n.200+995C>G
XR_001748471.1:n.85+995C>G
NM_001386339.1:c.5484G>C (SBF2) NP_001373268.1:p.Met1828Ile
NM_001386342.1:c.5259G>C (SBF2) NP_001373271.1:p.Met1753Ile
NM_030962.4:c.5388G>C (SBF2) MANE Select NP_112224.1:p.Met1796Ile