Canonical Allele Identifier: CA379644041

Gene: SBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10042962C>T , CM000673.2:g.10042962C>T	GRCh38
NC_000011.9:g.10064509C>T , CM000673.1:g.10064509C>T	GRCh37
NC_000011.8:g.10021085C>T	NCBI36
NG_008074.1:g.256246G>A , LRG_267:g.256246G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_030962.4:c.161G>A MANE Select	NP_112224.1:p.Trp54Ter
ENST00000256190.13:c.161G>A MANE Select	ENSP00000256190.8:p.Trp54Ter
NM_001386339.1:c.161G>A	NP_001373268.1:p.Trp54Ter
NM_001386342.1:c.161G>A	NP_001373271.1:p.Trp54Ter
NM_030962.3:c.161G>A , LRG_267t1:c.161G>A	NP_112224.1:p.Trp54Ter
ENST00000256190.12:c.161G>A	ENSP00000256190.8:p.Trp54Ter
ENST00000526353.2:n.311G>A
ENST00000527019.5:n.108G>A
ENST00000527019.6:n.108G>A
ENST00000533661.1:n.29G>A
ENST00000533661.2:n.117G>A
ENST00000533770.5:n.76G>A
ENST00000533770.6:c.161G>A	ENSP00000509247.1:p.Trp54Ter
ENST00000617179.4:c.20G>A	ENSP00000482806.1:p.Trp7Ter
ENST00000675281.1:c.161G>A	ENSP00000502491.1:p.Trp54Ter
ENST00000675281.2:c.161G>A	ENSP00000502491.1:p.Trp54Ter
ENST00000676324.1:c.161G>A	ENSP00000502578.1:p.Trp54Ter
ENST00000676324.2:c.161G>A	ENSP00000502578.1:p.Trp54Ter
ENST00000676387.1:c.161G>A	ENSP00000502779.1:p.Trp54Ter
ENST00000676387.2:c.161G>A	ENSP00000502779.1:p.Trp54Ter
ENST00000685217.1:n.492G>A
ENST00000686079.1:c.161G>A	ENSP00000509599.1:p.Trp54Ter
ENST00000686677.1:n.299G>A
ENST00000687210.1:c.161G>A	ENSP00000509480.1:p.Trp54Ter
ENST00000687256.1:c.161G>A	ENSP00000508741.1:p.Trp54Ter
ENST00000687300.1:c.161G>A	ENSP00000508415.1:p.Trp54Ter
ENST00000688206.1:c.161G>A	ENSP00000510516.1:p.Trp54Ter
ENST00000688417.1:n.311G>A
ENST00000688739.1:c.75G>A	ENSP00000510449.1:p.Val25=
ENST00000689128.1:c.161G>A	ENSP00000509587.1:p.Trp54Ter
ENST00000689258.1:c.142-11792G>A	ENSP00000510475.1:n.142-11792G>A
ENST00000689940.1:c.161G>A	ENSP00000508452.1:p.Trp54Ter
ENST00000690806.1:c.*96G>A	ENSP00000509417.1:n.*96G>A
ENST00000692716.1:c.161G>A	ENSP00000509545.1:p.Trp54Ter
ENST00000693022.1:c.161G>A	ENSP00000508914.1:p.Trp54Ter
ENST00000693201.1:c.161G>A	ENSP00000510346.1:p.Trp54Ter
ENST00000693212.1:c.161G>A	ENSP00000510716.1:p.Trp54Ter
XM_005253154.3:c.161G>A	XP_005253211.1:p.Trp54Ter
XM_005253154.5:c.161G>A	XP_005253211.1:p.Trp54Ter
XM_005253155.3:c.161G>A	XP_005253212.1:p.Trp54Ter
XM_005253155.5:c.161G>A	XP_005253212.1:p.Trp54Ter
XM_011520394.1:c.161G>A	XP_011518696.1:p.Trp54Ter
XM_011520394.3:c.161G>A	XP_011518696.1:p.Trp54Ter
XM_011520395.1:c.161G>A	XP_011518697.1:p.Trp54Ter
XM_011520395.3:c.161G>A	XP_011518697.1:p.Trp54Ter
XM_011520396.1:c.161G>A	XP_011518698.1:p.Trp54Ter
XM_011520396.3:c.161G>A	XP_011518698.1:p.Trp54Ter
XM_017018372.2:c.23G>A	XP_016873861.1:p.Trp8Ter
XM_017018373.2:c.23G>A	XP_016873862.1:p.Trp8Ter
XM_017018374.2:c.161G>A	XP_016873863.1:p.Trp54Ter
XM_017018375.2:c.161G>A	XP_016873864.1:p.Trp54Ter
XM_017018376.2:c.161G>A	XP_016873865.1:p.Trp54Ter
XM_017018377.2:c.161G>A	XP_016873866.1:p.Trp54Ter
XR_001747994.2:n.299G>A