Canonical Allele Identifier: CA597552513

Gene: SBF2 SBF2-AS1

Linked Data

• dbSNP Id: rs1173046941
• gnomAD v2: 11-9803056-C-CAAAG
• MyVariant Identifiers: chr11:g.9803056_9803057insAAAG (hg19) ; chr11:g.9781509_9781510insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9781514_9781517dup , CM000673.2:g.9781514_9781517dup	GRCh38
NC_000011.9:g.9803061_9803064dup , CM000673.1:g.9803061_9803064dup	GRCh37
NC_000011.8:g.9759637_9759640dup	NCBI36
NG_008074.1:g.517695_517698dup , LRG_267:g.517695_517698dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.1929_1932dup (SBF2)
ENST00000675281.2:c.5520_5523dup (SBF2)	ENSP00000502491.1:p.Asp1842LeufsTer2
ENST00000676324.2:c.*1753_*1756dup (SBF2)	ENSP00000502578.1:n.*1753_*1756dup
ENST00000676387.2:c.5502_5505dup (SBF2)	ENSP00000502779.1:p.Asp1836LeufsTer2
ENST00000688344.1:c.5052_5055dup (SBF2)	ENSP00000509987.1:p.Asp1686LeufsTer2
ENST00000689128.1:c.5541_5544dup (SBF2)	ENSP00000509587.1:p.Asp1849LeufsTer2
ENST00000689258.1:c.5382_5385dup (SBF2)	ENSP00000510475.1:p.Asp1796LeufsTer2
ENST00000689342.1:c.1611_1614dup (SBF2)
ENST00000689356.1:n.2616_2619dup (SBF2)
ENST00000689940.1:c.5439_5442dup (SBF2)	ENSP00000508452.1:p.Asp1815LeufsTer2
ENST00000690437.1:n.1394_1397dup (SBF2)
ENST00000690944.1:c.1525_1528dup (SBF2)
ENST00000691616.1:n.1921_1924dup (SBF2)
ENST00000692716.1:c.5316_5319dup (SBF2)	ENSP00000509545.1:p.Asp1774LeufsTer2
ENST00000693541.1:n.2364_2367dup (SBF2)
ENST00000256190.13:c.5445_5448dup (SBF2) MANE Select	ENSP00000256190.8:p.Asp1817LeufsTer2
ENST00000675281.1:c.5520_5523dup (SBF2)	ENSP00000502491.1:p.Asp1842LeufsTer2
ENST00000676324.1:c.*1753_*1756dup (SBF2)	ENSP00000502578.1:n.*1753_*1756dup
ENST00000676387.1:c.5502_5505dup (SBF2)	ENSP00000502779.1:p.Asp1836LeufsTer2
ENST00000256190.12:c.5445_5448dup (SBF2)	ENSP00000256190.8:p.Asp1817LeufsTer2
ENST00000525040.5:n.748_751dup (SBF2)
ENST00000617179.4:c.5304_5307dup (SBF2)	ENSP00000482806.1:p.Asp1770LeufsTer2
NM_030962.3:c.5445_5448dup , LRG_267t1:c.5445_5448dup (SBF2)	NP_112224.1:p.Asp1817LeufsTer2
NR_036485.1:n.211+23011_211+23014dup (SBF2-AS1)
XM_005253154.3:c.5541_5544dup (SBF2)	XP_005253211.1:p.Asp1849LeufsTer2
XM_005253155.3:c.5412_5415dup (SBF2)	XP_005253212.1:p.Asp1806LeufsTer2
XM_011520394.1:c.5427_5430dup (SBF2)	XP_011518696.1:p.Asp1811LeufsTer2
XR_931024.1:n.200+939_200+942dup
XR_931025.1:n.200+939_200+942dup
XM_005253154.5:c.5541_5544dup (SBF2)	XP_005253211.1:p.Asp1849LeufsTer2
XM_005253155.5:c.5412_5415dup (SBF2)	XP_005253212.1:p.Asp1806LeufsTer2
XM_011520394.3:c.5427_5430dup (SBF2)	XP_011518696.1:p.Asp1811LeufsTer2
XM_017018372.2:c.5403_5406dup (SBF2)	XP_016873861.1:p.Asp1803LeufsTer2
XM_017018373.2:c.5403_5406dup (SBF2)	XP_016873862.1:p.Asp1803LeufsTer2
XM_017018374.2:c.5316_5319dup (SBF2)	XP_016873863.1:p.Asp1774LeufsTer2
XM_017018375.2:c.5304_5307dup (SBF2)	XP_016873864.1:p.Asp1770LeufsTer2
XR_001747994.2:n.5552_5555dup (SBF2)
XR_001748470.1:n.200+939_200+942dup
XR_001748471.1:n.85+939_85+942dup
NM_001386339.1:c.5541_5544dup (SBF2)	NP_001373268.1:p.Asp1849LeufsTer2
NM_001386342.1:c.5316_5319dup (SBF2)	NP_001373271.1:p.Asp1774LeufsTer2
NM_030962.4:c.5445_5448dup (SBF2) MANE Select	NP_112224.1:p.Asp1817LeufsTer2