Canonical Allele Identifier: CA379645472

Gene: SBF2

Linked Data

• gnomAD v4: 11-9832233-G-T
• MyVariant Identifiers: chr11:g.9853780G>T (hg19) ; chr11:g.9832233G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9832233G>T , CM000673.2:g.9832233G>T	GRCh38
NC_000011.9:g.9853780G>T , CM000673.1:g.9853780G>T	GRCh37
NC_000011.8:g.9810356G>T	NCBI36
NG_008074.1:g.466975C>A , LRG_267:g.466975C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000530741.2:c.2347C>A	ENSP00000432643.2:p.Pro783Thr
ENST00000675281.2:c.3643C>A	ENSP00000502491.1:p.Pro1215Thr
ENST00000676324.2:c.3643C>A	ENSP00000502578.1:p.Pro1215Thr
ENST00000676387.2:c.3529C>A	ENSP00000502779.1:p.Pro1177Thr
ENST00000688344.1:c.3250C>A	ENSP00000509987.1:p.Pro1084Thr
ENST00000689128.1:c.3643C>A	ENSP00000509587.1:p.Pro1215Thr
ENST00000689258.1:c.3505C>A	ENSP00000510475.1:p.Pro1169Thr
ENST00000689356.1:n.814C>A
ENST00000689597.1:c.2347C>A	ENSP00000510781.1:p.Pro783Thr
ENST00000689674.1:c.2537C>A	ENSP00000510723.1:n.2537C>A
ENST00000689940.1:c.3637C>A	ENSP00000508452.1:p.Pro1213Thr
ENST00000690003.1:c.2442C>A	ENSP00000508748.1:n.2442C>A
ENST00000692716.1:c.3514C>A	ENSP00000509545.1:p.Pro1172Thr
ENST00000693181.1:c.2472C>A	ENSP00000510179.1:n.2472C>A
ENST00000256190.13:c.3643C>A MANE Select	ENSP00000256190.8:p.Pro1215Thr
ENST00000675281.1:c.3643C>A	ENSP00000502491.1:p.Pro1215Thr
ENST00000676324.1:c.3643C>A	ENSP00000502578.1:p.Pro1215Thr
ENST00000676387.1:c.3529C>A	ENSP00000502779.1:p.Pro1177Thr
ENST00000256190.12:c.3643C>A	ENSP00000256190.8:p.Pro1215Thr
ENST00000530741.1:c.294C>A
ENST00000617179.4:c.3502C>A	ENSP00000482806.1:p.Pro1168Thr
NM_030962.3:c.3643C>A , LRG_267t1:c.3643C>A	NP_112224.1:p.Pro1215Thr
XM_005253154.3:c.3643C>A	XP_005253211.1:p.Pro1215Thr
XM_005253155.3:c.3514C>A	XP_005253212.1:p.Pro1172Thr
XM_011520394.1:c.3529C>A	XP_011518696.1:p.Pro1177Thr
XM_011520395.1:c.3643C>A	XP_011518697.1:p.Pro1215Thr
XM_005253154.5:c.3643C>A	XP_005253211.1:p.Pro1215Thr
XM_005253155.5:c.3514C>A	XP_005253212.1:p.Pro1172Thr
XM_011520394.3:c.3529C>A	XP_011518696.1:p.Pro1177Thr
XM_011520395.3:c.3643C>A	XP_011518697.1:p.Pro1215Thr
XM_017018372.2:c.3505C>A	XP_016873861.1:p.Pro1169Thr
XM_017018373.2:c.3505C>A	XP_016873862.1:p.Pro1169Thr
XM_017018374.2:c.3514C>A	XP_016873863.1:p.Pro1172Thr
XM_017018375.2:c.3643C>A	XP_016873864.1:p.Pro1215Thr
XM_017018376.2:c.3643C>A	XP_016873865.1:p.Pro1215Thr
XR_001747994.2:n.3781C>A
NM_001386339.1:c.3643C>A	NP_001373268.1:p.Pro1215Thr
NM_001386342.1:c.3514C>A	NP_001373271.1:p.Pro1172Thr
NM_030962.4:c.3643C>A MANE Select	NP_112224.1:p.Pro1215Thr