Canonical Allele Identifier: CA379640258
Community Standard Title: NM_030962.4(SBF2):c.4296T>G (p.Tyr1432Ter)
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9808147A>C , CM000673.2:g.9808147A>C GRCh38
NC_000011.9:g.9829694A>C , CM000673.1:g.9829694A>C GRCh37
NC_000011.8:g.9786270A>C NCBI36
NG_008074.1:g.491061T>G , LRG_267:g.491061T>G

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.4296T>G (SBF2) MANE Select NP_112224.1:p.Tyr1432Ter
ENST00000256190.13:c.4296T>G (SBF2) MANE Select ENSP00000256190.8:p.Tyr1432Ter
NM_001386339.1:c.4392T>G (SBF2) NP_001373268.1:p.Tyr1464Ter
NM_001386342.1:c.4167T>G (SBF2) NP_001373271.1:p.Tyr1389Ter
NM_030962.3:c.4296T>G , LRG_267t1:c.4296T>G (SBF2) NP_112224.1:p.Tyr1432Ter
NR_036485.1:n.511A>C (SBF2-AS1)
ENST00000256190.12:c.4296T>G (SBF2) ENSP00000256190.8:p.Tyr1432Ter
ENST00000524961.6:n.780T>G (SBF2)
ENST00000528478.1:n.364T>G (SBF2)
ENST00000530741.2:c.2859T>G (SBF2) ENSP00000432643.2:p.Tyr953Ter
ENST00000532095.2:n.832T>G (SBF2)
ENST00000617179.4:c.4155T>G (SBF2) ENSP00000482806.1:p.Tyr1385Ter
ENST00000675281.1:c.4371T>G (SBF2) ENSP00000502491.1:p.Tyr1457Ter
ENST00000675281.2:c.4371T>G (SBF2) ENSP00000502491.1:p.Tyr1457Ter
ENST00000676324.1:c.*604T>G (SBF2) ENSP00000502578.1:n.*604T>G
ENST00000676324.2:c.*604T>G (SBF2) ENSP00000502578.1:n.*604T>G
ENST00000676387.1:c.4353T>G (SBF2) ENSP00000502779.1:p.Tyr1451Ter
ENST00000676387.2:c.4353T>G (SBF2) ENSP00000502779.1:p.Tyr1451Ter
ENST00000688344.1:c.3903T>G (SBF2) ENSP00000509987.1:p.Tyr1301Ter
ENST00000689128.1:c.4392T>G (SBF2) ENSP00000509587.1:p.Tyr1464Ter
ENST00000689258.1:c.4233T>G (SBF2) ENSP00000510475.1:p.Tyr1411Ter
ENST00000689342.1:c.465-3T>G (SBF2)
ENST00000689356.1:n.1467T>G (SBF2)
ENST00000689597.1:c.3000T>G (SBF2) ENSP00000510781.1:p.Tyr1000Ter
ENST00000689940.1:c.4290T>G (SBF2) ENSP00000508452.1:p.Tyr1430Ter
ENST00000690944.1:c.503T>G (SBF2)
ENST00000691616.1:n.772T>G (SBF2)
ENST00000692716.1:c.4167T>G (SBF2) ENSP00000509545.1:p.Tyr1389Ter
ENST00000693541.1:n.1215T>G (SBF2)
XM_005253154.3:c.4392T>G (SBF2) XP_005253211.1:p.Tyr1464Ter
XM_005253154.5:c.4392T>G (SBF2) XP_005253211.1:p.Tyr1464Ter
XM_005253155.3:c.4263T>G (SBF2) XP_005253212.1:p.Tyr1421Ter
XM_005253155.5:c.4263T>G (SBF2) XP_005253212.1:p.Tyr1421Ter
XM_011520394.1:c.4278T>G (SBF2) XP_011518696.1:p.Tyr1426Ter
XM_011520394.3:c.4278T>G (SBF2) XP_011518696.1:p.Tyr1426Ter
XM_017018372.2:c.4254T>G (SBF2) XP_016873861.1:p.Tyr1418Ter
XM_017018373.2:c.4254T>G (SBF2) XP_016873862.1:p.Tyr1418Ter
XM_017018374.2:c.4167T>G (SBF2) XP_016873863.1:p.Tyr1389Ter
XM_017018375.2:c.4155T>G (SBF2) XP_016873864.1:p.Tyr1385Ter
XR_001747994.2:n.4530T>G (SBF2)