Canonical Allele Identifier: CA379643245

Gene: SBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9812617A>G , CM000673.2:g.9812617A>G	GRCh38
NC_000011.9:g.9834164A>G , CM000673.1:g.9834164A>G	GRCh37
NC_000011.8:g.9790740A>G	NCBI36
NG_008074.1:g.486591T>C , LRG_267:g.486591T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.554T>C
ENST00000530741.2:c.2633T>C	ENSP00000432643.2:p.Met878Thr
ENST00000532095.2:n.606T>C
ENST00000675281.2:c.4145T>C	ENSP00000502491.1:p.Met1382Thr
ENST00000676324.2:c.*378T>C	ENSP00000502578.1:n.*378T>C
ENST00000676387.2:c.4127T>C	ENSP00000502779.1:p.Met1376Thr
ENST00000688344.1:c.3677T>C	ENSP00000509987.1:p.Met1226Thr
ENST00000689128.1:c.4166T>C	ENSP00000509587.1:p.Met1389Thr
ENST00000689258.1:c.4007T>C	ENSP00000510475.1:p.Met1336Thr
ENST00000689342.1:c.277T>C
ENST00000689356.1:n.1241T>C
ENST00000689597.1:c.2774T>C	ENSP00000510781.1:p.Met925Thr
ENST00000689940.1:c.4064T>C	ENSP00000508452.1:p.Met1355Thr
ENST00000690944.1:c.277T>C
ENST00000691616.1:n.554T>C
ENST00000692716.1:c.3941T>C	ENSP00000509545.1:p.Met1314Thr
ENST00000693541.1:n.989T>C
ENST00000256190.13:c.4070T>C MANE Select	ENSP00000256190.8:p.Met1357Thr
ENST00000675281.1:c.4145T>C	ENSP00000502491.1:p.Met1382Thr
ENST00000676324.1:c.*378T>C	ENSP00000502578.1:n.*378T>C
ENST00000676387.1:c.4127T>C	ENSP00000502779.1:p.Met1376Thr
ENST00000256190.12:c.4070T>C	ENSP00000256190.8:p.Met1357Thr
ENST00000524961.5:n.554T>C
ENST00000528478.1:n.138T>C
ENST00000530741.1:c.817T>C
ENST00000617179.4:c.3929T>C	ENSP00000482806.1:p.Met1310Thr
NM_030962.3:c.4070T>C , LRG_267t1:c.4070T>C	NP_112224.1:p.Met1357Thr
XM_005253154.3:c.4166T>C	XP_005253211.1:p.Met1389Thr
XM_005253155.3:c.4037T>C	XP_005253212.1:p.Met1346Thr
XM_011520394.1:c.4052T>C	XP_011518696.1:p.Met1351Thr
XM_005253154.5:c.4166T>C	XP_005253211.1:p.Met1389Thr
XM_005253155.5:c.4037T>C	XP_005253212.1:p.Met1346Thr
XM_011520394.3:c.4052T>C	XP_011518696.1:p.Met1351Thr
XM_017018372.2:c.4028T>C	XP_016873861.1:p.Met1343Thr
XM_017018373.2:c.4028T>C	XP_016873862.1:p.Met1343Thr
XM_017018374.2:c.3941T>C	XP_016873863.1:p.Met1314Thr
XM_017018375.2:c.3929T>C	XP_016873864.1:p.Met1310Thr
XR_001747994.2:n.4304T>C
NM_001386339.1:c.4166T>C	NP_001373268.1:p.Met1389Thr
NM_001386342.1:c.3941T>C	NP_001373271.1:p.Met1314Thr
NM_030962.4:c.4070T>C MANE Select	NP_112224.1:p.Met1357Thr