Canonical Allele Identifier: CA217634059
Gene: SBF2 HGNC NCBI

Linked Data

dbSNP Id: rs931271200
gnomAD v4: 11-9832235-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9832235G>T , CM000673.2:g.9832235G>T GRCh38
NC_000011.9:g.9853782G>T , CM000673.1:g.9853782G>T GRCh37
NC_000011.8:g.9810358G>T NCBI36
NG_008074.1:g.466973C>A , LRG_267:g.466973C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000530741.2:c.2345C>A ENSP00000432643.2:p.Ser782Tyr
ENST00000675281.2:c.3641C>A ENSP00000502491.1:p.Ser1214Tyr
ENST00000676324.2:c.3641C>A ENSP00000502578.1:p.Ser1214Tyr
ENST00000676387.2:c.3527C>A ENSP00000502779.1:p.Ser1176Tyr
ENST00000688344.1:c.3248C>A ENSP00000509987.1:p.Ser1083Tyr
ENST00000689128.1:c.3641C>A ENSP00000509587.1:p.Ser1214Tyr
ENST00000689258.1:c.3503C>A ENSP00000510475.1:p.Ser1168Tyr
ENST00000689356.1:n.812C>A
ENST00000689597.1:c.2345C>A ENSP00000510781.1:p.Ser782Tyr
ENST00000689674.1:c.2535C>A ENSP00000510723.1:n.2535C>A
ENST00000689940.1:c.3635C>A ENSP00000508452.1:p.Ser1212Tyr
ENST00000690003.1:c.2440C>A ENSP00000508748.1:n.2440C>A
ENST00000692716.1:c.3512C>A ENSP00000509545.1:p.Ser1171Tyr
ENST00000693181.1:c.2470C>A ENSP00000510179.1:n.2470C>A
ENST00000256190.13:c.3641C>A MANE Select ENSP00000256190.8:p.Ser1214Tyr
ENST00000675281.1:c.3641C>A ENSP00000502491.1:p.Ser1214Tyr
ENST00000676324.1:c.3641C>A ENSP00000502578.1:p.Ser1214Tyr
ENST00000676387.1:c.3527C>A ENSP00000502779.1:p.Ser1176Tyr
ENST00000256190.12:c.3641C>A ENSP00000256190.8:p.Ser1214Tyr
ENST00000530741.1:c.292C>A
ENST00000617179.4:c.3500C>A ENSP00000482806.1:p.Ser1167Tyr
NM_030962.3:c.3641C>A , LRG_267t1:c.3641C>A NP_112224.1:p.Ser1214Tyr
XM_005253154.3:c.3641C>A XP_005253211.1:p.Ser1214Tyr
XM_005253155.3:c.3512C>A XP_005253212.1:p.Ser1171Tyr
XM_011520394.1:c.3527C>A XP_011518696.1:p.Ser1176Tyr
XM_011520395.1:c.3641C>A XP_011518697.1:p.Ser1214Tyr
XM_005253154.5:c.3641C>A XP_005253211.1:p.Ser1214Tyr
XM_005253155.5:c.3512C>A XP_005253212.1:p.Ser1171Tyr
XM_011520394.3:c.3527C>A XP_011518696.1:p.Ser1176Tyr
XM_011520395.3:c.3641C>A XP_011518697.1:p.Ser1214Tyr
XM_017018372.2:c.3503C>A XP_016873861.1:p.Ser1168Tyr
XM_017018373.2:c.3503C>A XP_016873862.1:p.Ser1168Tyr
XM_017018374.2:c.3512C>A XP_016873863.1:p.Ser1171Tyr
XM_017018375.2:c.3641C>A XP_016873864.1:p.Ser1214Tyr
XM_017018376.2:c.3641C>A XP_016873865.1:p.Ser1214Tyr
XR_001747994.2:n.3779C>A
NM_001386339.1:c.3641C>A NP_001373268.1:p.Ser1214Tyr
NM_001386342.1:c.3512C>A NP_001373271.1:p.Ser1171Tyr
NM_030962.4:c.3641C>A MANE Select NP_112224.1:p.Ser1214Tyr