Canonical Allele Identifier: CA473075207

Gene: SBF2

Linked Data

• ClinVar Variation Id: 448235
• ClinVar RCV Id: RCV000516368 ; RCV003583165
• dbSNP Id: rs1554976504
• MyVariant Identifiers: chr11:g.10013985T>G (hg19) ; chr11:g.9992438T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9992438T>G , CM000673.2:g.9992438T>G	GRCh38
NC_000011.9:g.10013985T>G , CM000673.1:g.10013985T>G	GRCh37
NC_000011.8:g.9970561T>G	NCBI36
NG_008074.1:g.306770A>C , LRG_267:g.306770A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526353.2:n.1423A>C
ENST00000533770.6:c.1273A>C	ENSP00000509247.1:p.Arg425=
ENST00000675281.2:c.1273A>C	ENSP00000502491.1:p.Arg425=
ENST00000676324.2:c.1273A>C	ENSP00000502578.1:p.Arg425=
ENST00000676387.2:c.1159A>C	ENSP00000502779.1:p.Arg387=
ENST00000687210.1:c.1273A>C	ENSP00000509480.1:p.Arg425=
ENST00000688344.1:c.880A>C	ENSP00000509987.1:p.Arg294=
ENST00000688417.1:n.1423A>C
ENST00000689128.1:c.1273A>C	ENSP00000509587.1:p.Arg425=
ENST00000689258.1:c.1135A>C	ENSP00000510475.1:p.Arg379=
ENST00000689940.1:c.1273A>C	ENSP00000508452.1:p.Arg425=
ENST00000692716.1:c.1167+552A>C	ENSP00000509545.1:n.1167+552A>C
ENST00000256190.13:c.1273A>C MANE Select	ENSP00000256190.8:p.Arg425=
ENST00000675281.1:c.1273A>C	ENSP00000502491.1:p.Arg425=
ENST00000676324.1:c.1273A>C	ENSP00000502578.1:p.Arg425=
ENST00000676387.1:c.1159A>C	ENSP00000502779.1:p.Arg387=
ENST00000256190.12:c.1273A>C	ENSP00000256190.8:p.Arg425=
ENST00000420722.2:c.115+552A>C
ENST00000533770.5:n.1188A>C
ENST00000617179.4:c.1132A>C	ENSP00000482806.1:p.Arg378=
NM_030962.3:c.1273A>C , LRG_267t1:c.1273A>C	NP_112224.1:p.Arg425=
XM_005253154.3:c.1273A>C	XP_005253211.1:p.Arg425=
XM_005253155.3:c.1167+552A>C	XP_005253212.1:n.1167+552A>C
XM_011520394.1:c.1159A>C	XP_011518696.1:p.Arg387=
XM_011520395.1:c.1273A>C	XP_011518697.1:p.Arg425=
XM_011520396.1:c.1273A>C	XP_011518698.1:p.Arg425=
XM_005253154.5:c.1273A>C	XP_005253211.1:p.Arg425=
XM_005253155.5:c.1167+552A>C	XP_005253212.1:n.1167+552A>C
XM_011520394.3:c.1159A>C	XP_011518696.1:p.Arg387=
XM_011520395.3:c.1273A>C	XP_011518697.1:p.Arg425=
XM_011520396.3:c.1273A>C	XP_011518698.1:p.Arg425=
XM_017018372.2:c.1135A>C	XP_016873861.1:p.Arg379=
XM_017018373.2:c.1135A>C	XP_016873862.1:p.Arg379=
XM_017018374.2:c.1167+552A>C	XP_016873863.1:n.1167+552A>C
XM_017018375.2:c.1273A>C	XP_016873864.1:p.Arg425=
XM_017018376.2:c.1273A>C	XP_016873865.1:p.Arg425=
XM_017018377.2:c.1273A>C	XP_016873866.1:p.Arg425=
XR_001747994.2:n.1411A>C
NM_001386339.1:c.1273A>C	NP_001373268.1:p.Arg425=
NM_001386342.1:c.1167+552A>C	NP_001373271.1:n.1167+552A>C
NM_030962.4:c.1273A>C MANE Select	NP_112224.1:p.Arg425=