Canonical Allele Identifier: CA5880839

Gene: SBF2 SBF2-AS1

Linked Data

• ClinVar Variation Id: 397621
• ClinVar RCV Id: RCV000449588 ; RCV000498336 ; RCV000513369 ; RCV000626094 ; RCV000540860 ; RCV002339104
• dbSNP Id: rs750958357
• ExAC: 11:9809201 CTTT / C
• gnomAD v2: 11-9809201-CTTT-C
• gnomAD v3: 11-9787654-CTTT-C
• gnomAD v4: 11-9787654-CTTT-C
• MyVariant Identifiers: chr11:g.9809202_9809204del (hg19) ; chr11:g.9787655_9787657del (hg38)
• PubMed: PMID:26392352 ; PMID:27582484

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9787655_9787657del , CM000673.2:g.9787655_9787657del	GRCh38
NC_000011.9:g.9809202_9809204del , CM000673.1:g.9809202_9809204del	GRCh37
NC_000011.8:g.9765778_9765780del	NCBI36
NG_008074.1:g.511551_511553del , LRG_267:g.511551_511553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.1498_1500del (SBF2)
ENST00000532095.2:n.1550_1552del (SBF2)
ENST00000675281.2:c.5089_5091del (SBF2)	ENSP00000502491.1:p.Lys1697del
ENST00000676324.2:c.*1322_*1324del (SBF2)	ENSP00000502578.1:n.*1322_*1324del
ENST00000676387.2:c.5071_5073del (SBF2)	ENSP00000502779.1:p.Lys1691del
ENST00000688344.1:c.4621_4623del (SBF2)	ENSP00000509987.1:p.Lys1541del
ENST00000689128.1:c.5110_5112del (SBF2)	ENSP00000509587.1:p.Lys1704del
ENST00000689258.1:c.4951_4953del (SBF2)	ENSP00000510475.1:p.Lys1651del
ENST00000689342.1:c.1180_1182del (SBF2)
ENST00000689356.1:n.2185_2187del (SBF2)
ENST00000689597.1:c.3718_3720del (SBF2)	ENSP00000510781.1:p.Lys1240del
ENST00000689940.1:c.5008_5010del (SBF2)	ENSP00000508452.1:p.Lys1670del
ENST00000690944.1:c.1094_1096del (SBF2)
ENST00000691616.1:n.1490_1492del (SBF2)
ENST00000692716.1:c.4885_4887del (SBF2)	ENSP00000509545.1:p.Lys1629del
ENST00000693541.1:n.1933_1935del (SBF2)
ENST00000256190.13:c.5014_5016del (SBF2) MANE Select	ENSP00000256190.8:p.Lys1672del
ENST00000675281.1:c.5089_5091del (SBF2)	ENSP00000502491.1:p.Lys1697del
ENST00000676324.1:c.*1322_*1324del (SBF2)	ENSP00000502578.1:n.*1322_*1324del
ENST00000676387.1:c.5071_5073del (SBF2)	ENSP00000502779.1:p.Lys1691del
ENST00000256190.12:c.5014_5016del (SBF2)	ENSP00000256190.8:p.Lys1672del
ENST00000525040.5:n.317_319del (SBF2)
ENST00000532095.1:c.178_180del (SBF2)	ENSP00000434620.1:p.Lys60del
ENST00000617179.4:c.4873_4875del (SBF2)	ENSP00000482806.1:p.Lys1625del
NM_030962.3:c.5014_5016del , LRG_267t1:c.5014_5016del (SBF2)	NP_112224.1:p.Lys1672del
NR_036485.1:n.212-20193_212-20191del (SBF2-AS1)
XM_005253154.3:c.5110_5112del (SBF2)	XP_005253211.1:p.Lys1704del
XM_005253155.3:c.4981_4983del (SBF2)	XP_005253212.1:p.Lys1661del
XM_011520394.1:c.4996_4998del (SBF2)	XP_011518696.1:p.Lys1666del
XR_931024.1:n.455+2879_455+2881del
XR_931025.1:n.271-3214_271-3212del
XM_005253154.5:c.5110_5112del (SBF2)	XP_005253211.1:p.Lys1704del
XM_005253155.5:c.4981_4983del (SBF2)	XP_005253212.1:p.Lys1661del
XM_011520394.3:c.4996_4998del (SBF2)	XP_011518696.1:p.Lys1666del
XM_017018372.2:c.4972_4974del (SBF2)	XP_016873861.1:p.Lys1658del
XM_017018373.2:c.4972_4974del (SBF2)	XP_016873862.1:p.Lys1658del
XM_017018374.2:c.4885_4887del (SBF2)	XP_016873863.1:p.Lys1629del
XM_017018375.2:c.4873_4875del (SBF2)	XP_016873864.1:p.Lys1625del
XR_001747994.2:n.5121_5123del (SBF2)
NM_001386339.1:c.5110_5112del (SBF2)	NP_001373268.1:p.Lys1704del
NM_001386342.1:c.4885_4887del (SBF2)	NP_001373271.1:p.Lys1629del
NM_030962.4:c.5014_5016del (SBF2) MANE Select	NP_112224.1:p.Lys1672del