Canonical Allele Identifier: CA5881079

Gene: SBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9812698A>G , CM000673.2:g.9812698A>G	GRCh38
NC_000011.9:g.9834245A>G , CM000673.1:g.9834245A>G	GRCh37
NC_000011.8:g.9790821A>G	NCBI36
NG_008074.1:g.486510T>C , LRG_267:g.486510T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.473T>C
ENST00000530741.2:c.2552T>C	ENSP00000432643.2:p.Val851Ala
ENST00000532095.2:n.525T>C
ENST00000675281.2:c.4064T>C	ENSP00000502491.1:p.Val1355Ala
ENST00000676324.2:c.*297T>C	ENSP00000502578.1:n.*297T>C
ENST00000676387.2:c.4046T>C	ENSP00000502779.1:p.Val1349Ala
ENST00000688344.1:c.3596T>C	ENSP00000509987.1:p.Val1199Ala
ENST00000689128.1:c.4085T>C	ENSP00000509587.1:p.Val1362Ala
ENST00000689258.1:c.3926T>C	ENSP00000510475.1:p.Val1309Ala
ENST00000689342.1:c.196T>C
ENST00000689356.1:n.1160T>C
ENST00000689597.1:c.2693T>C	ENSP00000510781.1:p.Val898Ala
ENST00000689940.1:c.3983T>C	ENSP00000508452.1:p.Val1328Ala
ENST00000690944.1:c.196T>C
ENST00000691616.1:n.473T>C
ENST00000692716.1:c.3860T>C	ENSP00000509545.1:p.Val1287Ala
ENST00000693541.1:n.908T>C
ENST00000256190.13:c.3989T>C MANE Select	ENSP00000256190.8:p.Val1330Ala
ENST00000675281.1:c.4064T>C	ENSP00000502491.1:p.Val1355Ala
ENST00000676324.1:c.*297T>C	ENSP00000502578.1:n.*297T>C
ENST00000676387.1:c.4046T>C	ENSP00000502779.1:p.Val1349Ala
ENST00000256190.12:c.3989T>C	ENSP00000256190.8:p.Val1330Ala
ENST00000524961.5:n.473T>C
ENST00000528478.1:n.57T>C
ENST00000530741.1:c.736T>C
ENST00000533584.1:n.509T>C
ENST00000617179.4:c.3848T>C	ENSP00000482806.1:p.Val1283Ala
NM_030962.3:c.3989T>C , LRG_267t1:c.3989T>C	NP_112224.1:p.Val1330Ala
XM_005253154.3:c.4085T>C	XP_005253211.1:p.Val1362Ala
XM_005253155.3:c.3956T>C	XP_005253212.1:p.Val1319Ala
XM_011520394.1:c.3971T>C	XP_011518696.1:p.Val1324Ala
XM_005253154.5:c.4085T>C	XP_005253211.1:p.Val1362Ala
XM_005253155.5:c.3956T>C	XP_005253212.1:p.Val1319Ala
XM_011520394.3:c.3971T>C	XP_011518696.1:p.Val1324Ala
XM_017018372.2:c.3947T>C	XP_016873861.1:p.Val1316Ala
XM_017018373.2:c.3947T>C	XP_016873862.1:p.Val1316Ala
XM_017018374.2:c.3860T>C	XP_016873863.1:p.Val1287Ala
XM_017018375.2:c.3848T>C	XP_016873864.1:p.Val1283Ala
XR_001747994.2:n.4223T>C
NM_001386339.1:c.4085T>C	NP_001373268.1:p.Val1362Ala
NM_001386342.1:c.3860T>C	NP_001373271.1:p.Val1287Ala
NM_030962.4:c.3989T>C MANE Select	NP_112224.1:p.Val1330Ala