Canonical Allele Identifier: CA379629971

Gene: SBF2 SBF2-AS1

Linked Data

• dbSNP Id: rs1344751054
• gnomAD v3: 11-9781509-C-T
• gnomAD v4: 11-9781509-C-T
• MyVariant Identifiers: chr11:g.9803056C>T (hg19) ; chr11:g.9781509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9781509C>T , CM000673.2:g.9781509C>T	GRCh38
NC_000011.9:g.9803056C>T , CM000673.1:g.9803056C>T	GRCh37
NC_000011.8:g.9759632C>T	NCBI36
NG_008074.1:g.517699G>A , LRG_267:g.517699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.1933G>A (SBF2)
ENST00000675281.2:c.5524G>A (SBF2)	ENSP00000502491.1:p.Asp1842Asn
ENST00000676324.2:c.*1757G>A (SBF2)	ENSP00000502578.1:n.*1757G>A
ENST00000676387.2:c.5506G>A (SBF2)	ENSP00000502779.1:p.Asp1836Asn
ENST00000688344.1:c.5056G>A (SBF2)	ENSP00000509987.1:p.Asp1686Asn
ENST00000689128.1:c.5545G>A (SBF2)	ENSP00000509587.1:p.Asp1849Asn
ENST00000689258.1:c.5386G>A (SBF2)	ENSP00000510475.1:p.Asp1796Asn
ENST00000689342.1:c.1615G>A (SBF2)
ENST00000689356.1:n.2620G>A (SBF2)
ENST00000689940.1:c.5443G>A (SBF2)	ENSP00000508452.1:p.Asp1815Asn
ENST00000690437.1:n.1398G>A (SBF2)
ENST00000690944.1:c.1529G>A (SBF2)
ENST00000691616.1:n.1925G>A (SBF2)
ENST00000692716.1:c.5320G>A (SBF2)	ENSP00000509545.1:p.Asp1774Asn
ENST00000693541.1:n.2368G>A (SBF2)
ENST00000256190.13:c.5449G>A (SBF2) MANE Select	ENSP00000256190.8:p.Asp1817Asn
ENST00000675281.1:c.5524G>A (SBF2)	ENSP00000502491.1:p.Asp1842Asn
ENST00000676324.1:c.*1757G>A (SBF2)	ENSP00000502578.1:n.*1757G>A
ENST00000676387.1:c.5506G>A (SBF2)	ENSP00000502779.1:p.Asp1836Asn
ENST00000256190.12:c.5449G>A (SBF2)	ENSP00000256190.8:p.Asp1817Asn
ENST00000525040.5:n.752G>A (SBF2)
ENST00000617179.4:c.5308G>A (SBF2)	ENSP00000482806.1:p.Asp1770Asn
NM_030962.3:c.5449G>A , LRG_267t1:c.5449G>A (SBF2)	NP_112224.1:p.Asp1817Asn
NR_036485.1:n.211+23006C>T (SBF2-AS1)
XM_005253154.3:c.5545G>A (SBF2)	XP_005253211.1:p.Asp1849Asn
XM_005253155.3:c.5416G>A (SBF2)	XP_005253212.1:p.Asp1806Asn
XM_011520394.1:c.5431G>A (SBF2)	XP_011518696.1:p.Asp1811Asn
XR_931024.1:n.200+934C>T
XR_931025.1:n.200+934C>T
XM_005253154.5:c.5545G>A (SBF2)	XP_005253211.1:p.Asp1849Asn
XM_005253155.5:c.5416G>A (SBF2)	XP_005253212.1:p.Asp1806Asn
XM_011520394.3:c.5431G>A (SBF2)	XP_011518696.1:p.Asp1811Asn
XM_017018372.2:c.5407G>A (SBF2)	XP_016873861.1:p.Asp1803Asn
XM_017018373.2:c.5407G>A (SBF2)	XP_016873862.1:p.Asp1803Asn
XM_017018374.2:c.5320G>A (SBF2)	XP_016873863.1:p.Asp1774Asn
XM_017018375.2:c.5308G>A (SBF2)	XP_016873864.1:p.Asp1770Asn
XR_001747994.2:n.5556G>A (SBF2)
XR_001748470.1:n.200+934C>T
XR_001748471.1:n.85+934C>T
NM_001386339.1:c.5545G>A (SBF2)	NP_001373268.1:p.Asp1849Asn
NM_001386342.1:c.5320G>A (SBF2)	NP_001373271.1:p.Asp1774Asn
NM_030962.4:c.5449G>A (SBF2) MANE Select	NP_112224.1:p.Asp1817Asn