Canonical Allele Identifier: CA379630001

Gene: SBF2 SBF2-AS1

Linked Data

• gnomAD v4: 11-9781517-G-A
• MyVariant Identifiers: chr11:g.9803064G>A (hg19) ; chr11:g.9781517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9781517G>A , CM000673.2:g.9781517G>A	GRCh38
NC_000011.9:g.9803064G>A , CM000673.1:g.9803064G>A	GRCh37
NC_000011.8:g.9759640G>A	NCBI36
NG_008074.1:g.517691C>T , LRG_267:g.517691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.1925C>T (SBF2)
ENST00000675281.2:c.5516C>T (SBF2)	ENSP00000502491.1:p.Ala1839Val
ENST00000676324.2:c.*1749C>T (SBF2)	ENSP00000502578.1:n.*1749C>T
ENST00000676387.2:c.5498C>T (SBF2)	ENSP00000502779.1:p.Ala1833Val
ENST00000688344.1:c.5048C>T (SBF2)	ENSP00000509987.1:p.Ala1683Val
ENST00000689128.1:c.5537C>T (SBF2)	ENSP00000509587.1:p.Ala1846Val
ENST00000689258.1:c.5378C>T (SBF2)	ENSP00000510475.1:p.Ala1793Val
ENST00000689342.1:c.1607C>T (SBF2)
ENST00000689356.1:n.2612C>T (SBF2)
ENST00000689940.1:c.5435C>T (SBF2)	ENSP00000508452.1:p.Ala1812Val
ENST00000690437.1:n.1390C>T (SBF2)
ENST00000690944.1:c.1521C>T (SBF2)
ENST00000691616.1:n.1917C>T (SBF2)
ENST00000692716.1:c.5312C>T (SBF2)	ENSP00000509545.1:p.Ala1771Val
ENST00000693541.1:n.2360C>T (SBF2)
ENST00000256190.13:c.5441C>T (SBF2) MANE Select	ENSP00000256190.8:p.Ala1814Val
ENST00000675281.1:c.5516C>T (SBF2)	ENSP00000502491.1:p.Ala1839Val
ENST00000676324.1:c.*1749C>T (SBF2)	ENSP00000502578.1:n.*1749C>T
ENST00000676387.1:c.5498C>T (SBF2)	ENSP00000502779.1:p.Ala1833Val
ENST00000256190.12:c.5441C>T (SBF2)	ENSP00000256190.8:p.Ala1814Val
ENST00000525040.5:n.744C>T (SBF2)
ENST00000617179.4:c.5300C>T (SBF2)	ENSP00000482806.1:p.Ala1767Val
NM_030962.3:c.5441C>T , LRG_267t1:c.5441C>T (SBF2)	NP_112224.1:p.Ala1814Val
NR_036485.1:n.211+23014G>A (SBF2-AS1)
XM_005253154.3:c.5537C>T (SBF2)	XP_005253211.1:p.Ala1846Val
XM_005253155.3:c.5408C>T (SBF2)	XP_005253212.1:p.Ala1803Val
XM_011520394.1:c.5423C>T (SBF2)	XP_011518696.1:p.Ala1808Val
XR_931024.1:n.200+942G>A
XR_931025.1:n.200+942G>A
XM_005253154.5:c.5537C>T (SBF2)	XP_005253211.1:p.Ala1846Val
XM_005253155.5:c.5408C>T (SBF2)	XP_005253212.1:p.Ala1803Val
XM_011520394.3:c.5423C>T (SBF2)	XP_011518696.1:p.Ala1808Val
XM_017018372.2:c.5399C>T (SBF2)	XP_016873861.1:p.Ala1800Val
XM_017018373.2:c.5399C>T (SBF2)	XP_016873862.1:p.Ala1800Val
XM_017018374.2:c.5312C>T (SBF2)	XP_016873863.1:p.Ala1771Val
XM_017018375.2:c.5300C>T (SBF2)	XP_016873864.1:p.Ala1767Val
XR_001747994.2:n.5548C>T (SBF2)
XR_001748470.1:n.200+942G>A
XR_001748471.1:n.85+942G>A
NM_001386339.1:c.5537C>T (SBF2)	NP_001373268.1:p.Ala1846Val
NM_001386342.1:c.5312C>T (SBF2)	NP_001373271.1:p.Ala1771Val
NM_030962.4:c.5441C>T (SBF2) MANE Select	NP_112224.1:p.Ala1814Val