Canonical Allele Identifier: CA597567066

Gene: SBF2

Linked Data

• ClinVar Variation Id: 436645
• ClinVar RCV Id: RCV000501787 ; RCV001412974
• dbSNP Id: rs1475155503
• gnomAD v2: 11-9868496-T-G
• gnomAD v3: 11-9846949-T-G
• gnomAD v4: 11-9846949-T-G
• MyVariant Identifiers: chr11:g.9868496T>G (hg19) ; chr11:g.9846949T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9846949T>G , CM000673.2:g.9846949T>G	GRCh38
NC_000011.9:g.9868496T>G , CM000673.1:g.9868496T>G	GRCh37
NC_000011.8:g.9825072T>G	NCBI36
NG_008074.1:g.452259A>C , LRG_267:g.452259A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420722.3:c.1638+7A>C	ENSP00000410478.3:n.1638+7A>C
ENST00000530741.2:c.1638+7A>C	ENSP00000432643.2:n.1638+7A>C
ENST00000533770.6:c.2934+7A>C	ENSP00000509247.1:n.2934+7A>C
ENST00000675281.2:c.2934+7A>C	ENSP00000502491.1:n.2934+7A>C
ENST00000676324.2:c.2934+7A>C	ENSP00000502578.1:n.2934+7A>C
ENST00000676387.2:c.2820+7A>C	ENSP00000502779.1:n.2820+7A>C
ENST00000688344.1:c.2541+7A>C	ENSP00000509987.1:n.2541+7A>C
ENST00000689128.1:c.2934+7A>C	ENSP00000509587.1:n.2934+7A>C
ENST00000689258.1:c.2796+7A>C	ENSP00000510475.1:n.2796+7A>C
ENST00000689597.1:c.1638+7A>C	ENSP00000510781.1:n.1638+7A>C
ENST00000689674.1:c.1638+7A>C	ENSP00000510723.1:n.1638+7A>C
ENST00000689940.1:c.2928+7A>C	ENSP00000508452.1:n.2928+7A>C
ENST00000690003.1:c.1638+7A>C	ENSP00000508748.1:n.1638+7A>C
ENST00000692716.1:c.2805+7A>C	ENSP00000509545.1:n.2805+7A>C
ENST00000693181.1:c.1638+7A>C	ENSP00000510179.1:n.1638+7A>C
ENST00000256190.13:c.2934+7A>C MANE Select	ENSP00000256190.8:n.2934+7A>C
ENST00000675281.1:c.2934+7A>C	ENSP00000502491.1:n.2934+7A>C
ENST00000676324.1:c.2934+7A>C	ENSP00000502578.1:n.2934+7A>C
ENST00000676387.1:c.2820+7A>C	ENSP00000502779.1:n.2820+7A>C
ENST00000256190.12:c.2934+7A>C	ENSP00000256190.8:n.2934+7A>C
ENST00000533770.5:n.2849+7A>C
ENST00000617179.4:c.2793+7A>C	ENSP00000482806.1:n.2793+7A>C
NM_030962.3:c.2934+7A>C , LRG_267t1:c.2934+7A>C	NP_112224.1:n.2934+7A>C
NR_120539.1:n.135+7673T>G
XM_005253154.3:c.2934+7A>C	XP_005253211.1:n.2934+7A>C
XM_005253155.3:c.2805+7A>C	XP_005253212.1:n.2805+7A>C
XM_011520394.1:c.2820+7A>C	XP_011518696.1:n.2820+7A>C
XM_011520395.1:c.2934+7A>C	XP_011518697.1:n.2934+7A>C
XM_011520396.1:c.2934+7A>C	XP_011518698.1:n.2934+7A>C
XM_005253154.5:c.2934+7A>C	XP_005253211.1:n.2934+7A>C
XM_005253155.5:c.2805+7A>C	XP_005253212.1:n.2805+7A>C
XM_011520394.3:c.2820+7A>C	XP_011518696.1:n.2820+7A>C
XM_011520395.3:c.2934+7A>C	XP_011518697.1:n.2934+7A>C
XM_011520396.3:c.2934+7A>C	XP_011518698.1:n.2934+7A>C
XM_017018372.2:c.2796+7A>C	XP_016873861.1:n.2796+7A>C
XM_017018373.2:c.2796+7A>C	XP_016873862.1:n.2796+7A>C
XM_017018374.2:c.2805+7A>C	XP_016873863.1:n.2805+7A>C
XM_017018375.2:c.2934+7A>C	XP_016873864.1:n.2934+7A>C
XM_017018376.2:c.2934+7A>C	XP_016873865.1:n.2934+7A>C
XM_017018377.2:c.2934+7A>C	XP_016873866.1:n.2934+7A>C
XR_001747994.2:n.3072+7A>C
NM_001386339.1:c.2934+7A>C	NP_001373268.1:n.2934+7A>C
NM_001386342.1:c.2805+7A>C	NP_001373271.1:n.2805+7A>C
NM_030962.4:c.2934+7A>C MANE Select	NP_112224.1:n.2934+7A>C