Canonical Allele Identifier: CA379646558
Community Standard Title: NM_030962.4(SBF2):c.387T>A (p.Tyr129Ter)
Gene: SBF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.10031063A>T , CM000673.2:g.10031063A>T GRCh38
NC_000011.9:g.10052610A>T , CM000673.1:g.10052610A>T GRCh37
NC_000011.8:g.10009186A>T NCBI36
NG_008074.1:g.268145T>A , LRG_267:g.268145T>A

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.387T>A MANE Select NP_112224.1:p.Tyr129Ter
ENST00000256190.13:c.387T>A MANE Select ENSP00000256190.8:p.Tyr129Ter
NM_001386339.1:c.387T>A NP_001373268.1:p.Tyr129Ter
NM_001386342.1:c.387T>A NP_001373271.1:p.Tyr129Ter
NM_030962.3:c.387T>A , LRG_267t1:c.387T>A NP_112224.1:p.Tyr129Ter
ENST00000256190.12:c.387T>A ENSP00000256190.8:p.Tyr129Ter
ENST00000526353.2:n.537T>A
ENST00000527019.5:n.334T>A
ENST00000527019.6:n.334T>A
ENST00000533661.1:n.255T>A
ENST00000533661.2:n.343T>A
ENST00000533770.5:n.302T>A
ENST00000533770.6:c.387T>A ENSP00000509247.1:p.Tyr129Ter
ENST00000617179.4:c.246T>A ENSP00000482806.1:p.Tyr82Ter
ENST00000675281.1:c.387T>A ENSP00000502491.1:p.Tyr129Ter
ENST00000675281.2:c.387T>A ENSP00000502491.1:p.Tyr129Ter
ENST00000676324.1:c.387T>A ENSP00000502578.1:p.Tyr129Ter
ENST00000676324.2:c.387T>A ENSP00000502578.1:p.Tyr129Ter
ENST00000676387.1:c.387T>A ENSP00000502779.1:p.Tyr129Ter
ENST00000676387.2:c.387T>A ENSP00000502779.1:p.Tyr129Ter
ENST00000685217.1:n.718T>A
ENST00000686079.1:c.387T>A ENSP00000509599.1:p.Tyr129Ter
ENST00000687210.1:c.387T>A ENSP00000509480.1:p.Tyr129Ter
ENST00000687256.1:c.387T>A ENSP00000508741.1:p.Tyr129Ter
ENST00000687300.1:c.387T>A ENSP00000508415.1:p.Tyr129Ter
ENST00000688206.1:c.387T>A ENSP00000510516.1:p.Tyr129Ter
ENST00000688344.1:c.108T>A ENSP00000509987.1:p.Tyr36Ter
ENST00000688417.1:n.537T>A
ENST00000688739.1:c.*166T>A ENSP00000510449.1:n.*166T>A
ENST00000689128.1:c.387T>A ENSP00000509587.1:p.Tyr129Ter
ENST00000689258.1:c.249T>A ENSP00000510475.1:p.Tyr83Ter
ENST00000689940.1:c.387T>A ENSP00000508452.1:p.Tyr129Ter
ENST00000692716.1:c.387T>A ENSP00000509545.1:p.Tyr129Ter
ENST00000693022.1:c.387T>A ENSP00000508914.1:p.Tyr129Ter
ENST00000693201.1:c.365+22T>A ENSP00000510346.1:n.365+22T>A
ENST00000693212.1:c.387T>A ENSP00000510716.1:p.Tyr129Ter
XM_005253154.3:c.387T>A XP_005253211.1:p.Tyr129Ter
XM_005253154.5:c.387T>A XP_005253211.1:p.Tyr129Ter
XM_005253155.3:c.387T>A XP_005253212.1:p.Tyr129Ter
XM_005253155.5:c.387T>A XP_005253212.1:p.Tyr129Ter
XM_011520394.1:c.387T>A XP_011518696.1:p.Tyr129Ter
XM_011520394.3:c.387T>A XP_011518696.1:p.Tyr129Ter
XM_011520395.1:c.387T>A XP_011518697.1:p.Tyr129Ter
XM_011520395.3:c.387T>A XP_011518697.1:p.Tyr129Ter
XM_011520396.1:c.387T>A XP_011518698.1:p.Tyr129Ter
XM_011520396.3:c.387T>A XP_011518698.1:p.Tyr129Ter
XM_017018372.2:c.249T>A XP_016873861.1:p.Tyr83Ter
XM_017018373.2:c.249T>A XP_016873862.1:p.Tyr83Ter
XM_017018374.2:c.387T>A XP_016873863.1:p.Tyr129Ter
XM_017018375.2:c.387T>A XP_016873864.1:p.Tyr129Ter
XM_017018376.2:c.387T>A XP_016873865.1:p.Tyr129Ter
XM_017018377.2:c.387T>A XP_016873866.1:p.Tyr129Ter
XR_001747994.2:n.525T>A