Canonical Allele Identifier: CA935028543

Gene: SBF2

Linked Data

• dbSNP Id: rs747112293
• gnomAD v3: 11-9832191-C-A
• gnomAD v4: 11-9832191-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9832191C>A , CM000673.2:g.9832191C>A	GRCh38
NC_000011.9:g.9853738C>A , CM000673.1:g.9853738C>A	GRCh37
NC_000011.8:g.9810314C>A	NCBI36
NG_008074.1:g.467017G>T , LRG_267:g.467017G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000530741.2:c.2356+33G>T	ENSP00000432643.2:n.2356+33G>T
ENST00000675281.2:c.3652+33G>T	ENSP00000502491.1:n.3652+33G>T
ENST00000676324.2:c.3652+33G>T	ENSP00000502578.1:n.3652+33G>T
ENST00000676387.2:c.3538+33G>T	ENSP00000502779.1:n.3538+33G>T
ENST00000688344.1:c.3259+33G>T	ENSP00000509987.1:n.3259+33G>T
ENST00000689128.1:c.3652+33G>T	ENSP00000509587.1:n.3652+33G>T
ENST00000689258.1:c.3514+33G>T	ENSP00000510475.1:n.3514+33G>T
ENST00000689356.1:n.823+33G>T
ENST00000689597.1:c.2356+33G>T	ENSP00000510781.1:n.2356+33G>T
ENST00000689940.1:c.3646+33G>T	ENSP00000508452.1:n.3646+33G>T
ENST00000692716.1:c.3523+33G>T	ENSP00000509545.1:n.3523+33G>T
ENST00000256190.13:c.3652+33G>T MANE Select	ENSP00000256190.8:n.3652+33G>T
ENST00000675281.1:c.3652+33G>T	ENSP00000502491.1:n.3652+33G>T
ENST00000676324.1:c.3652+33G>T	ENSP00000502578.1:n.3652+33G>T
ENST00000676387.1:c.3538+33G>T	ENSP00000502779.1:n.3538+33G>T
ENST00000256190.12:c.3652+33G>T	ENSP00000256190.8:n.3652+33G>T
ENST00000530741.1:c.303+33G>T
ENST00000617179.4:c.3511+33G>T	ENSP00000482806.1:n.3511+33G>T
NM_030962.3:c.3652+33G>T , LRG_267t1:c.3652+33G>T	NP_112224.1:n.3652+33G>T
XM_005253154.3:c.3652+33G>T	XP_005253211.1:n.3652+33G>T
XM_005253155.3:c.3523+33G>T	XP_005253212.1:n.3523+33G>T
XM_011520394.1:c.3538+33G>T	XP_011518696.1:n.3538+33G>T
XM_011520395.1:c.3652+33G>T	XP_011518697.1:n.3652+33G>T
XM_005253154.5:c.3652+33G>T	XP_005253211.1:n.3652+33G>T
XM_005253155.5:c.3523+33G>T	XP_005253212.1:n.3523+33G>T
XM_011520394.3:c.3538+33G>T	XP_011518696.1:n.3538+33G>T
XM_011520395.3:c.3652+33G>T	XP_011518697.1:n.3652+33G>T
XM_017018372.2:c.3514+33G>T	XP_016873861.1:n.3514+33G>T
XM_017018373.2:c.3514+33G>T	XP_016873862.1:n.3514+33G>T
XM_017018374.2:c.3523+33G>T	XP_016873863.1:n.3523+33G>T
XM_017018375.2:c.3652+33G>T	XP_016873864.1:n.3652+33G>T
XM_017018376.2:c.3652+33G>T	XP_016873865.1:n.3652+33G>T
XR_001747994.2:n.3790+33G>T
NM_001386339.1:c.3652+33G>T	NP_001373268.1:n.3652+33G>T
NM_001386342.1:c.3523+33G>T	NP_001373271.1:n.3523+33G>T
NM_030962.4:c.3652+33G>T MANE Select	NP_112224.1:n.3652+33G>T