Canonical Allele Identifier: CA379629999

Gene: SBF2 SBF2-AS1

Linked Data

• dbSNP Id: rs1362800169
• gnomAD v2: 11-9803062-A-G
• gnomAD v4: 11-9781515-A-G
• MyVariant Identifiers: chr11:g.9803062A>G (hg19) ; chr11:g.9781515A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9781515A>G , CM000673.2:g.9781515A>G	GRCh38
NC_000011.9:g.9803062A>G , CM000673.1:g.9803062A>G	GRCh37
NC_000011.8:g.9759638A>G	NCBI36
NG_008074.1:g.517693T>C , LRG_267:g.517693T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.1927T>C (SBF2)
ENST00000675281.2:c.5518T>C (SBF2)	ENSP00000502491.1:p.Phe1840Leu
ENST00000676324.2:c.*1751T>C (SBF2)	ENSP00000502578.1:n.*1751T>C
ENST00000676387.2:c.5500T>C (SBF2)	ENSP00000502779.1:p.Phe1834Leu
ENST00000688344.1:c.5050T>C (SBF2)	ENSP00000509987.1:p.Phe1684Leu
ENST00000689128.1:c.5539T>C (SBF2)	ENSP00000509587.1:p.Phe1847Leu
ENST00000689258.1:c.5380T>C (SBF2)	ENSP00000510475.1:p.Phe1794Leu
ENST00000689342.1:c.1609T>C (SBF2)
ENST00000689356.1:n.2614T>C (SBF2)
ENST00000689940.1:c.5437T>C (SBF2)	ENSP00000508452.1:p.Phe1813Leu
ENST00000690437.1:n.1392T>C (SBF2)
ENST00000690944.1:c.1523T>C (SBF2)
ENST00000691616.1:n.1919T>C (SBF2)
ENST00000692716.1:c.5314T>C (SBF2)	ENSP00000509545.1:p.Phe1772Leu
ENST00000693541.1:n.2362T>C (SBF2)
ENST00000256190.13:c.5443T>C (SBF2) MANE Select	ENSP00000256190.8:p.Phe1815Leu
ENST00000675281.1:c.5518T>C (SBF2)	ENSP00000502491.1:p.Phe1840Leu
ENST00000676324.1:c.*1751T>C (SBF2)	ENSP00000502578.1:n.*1751T>C
ENST00000676387.1:c.5500T>C (SBF2)	ENSP00000502779.1:p.Phe1834Leu
ENST00000256190.12:c.5443T>C (SBF2)	ENSP00000256190.8:p.Phe1815Leu
ENST00000525040.5:n.746T>C (SBF2)
ENST00000617179.4:c.5302T>C (SBF2)	ENSP00000482806.1:p.Phe1768Leu
NM_030962.3:c.5443T>C , LRG_267t1:c.5443T>C (SBF2)	NP_112224.1:p.Phe1815Leu
NR_036485.1:n.211+23012A>G (SBF2-AS1)
XM_005253154.3:c.5539T>C (SBF2)	XP_005253211.1:p.Phe1847Leu
XM_005253155.3:c.5410T>C (SBF2)	XP_005253212.1:p.Phe1804Leu
XM_011520394.1:c.5425T>C (SBF2)	XP_011518696.1:p.Phe1809Leu
XR_931024.1:n.200+940A>G
XR_931025.1:n.200+940A>G
XM_005253154.5:c.5539T>C (SBF2)	XP_005253211.1:p.Phe1847Leu
XM_005253155.5:c.5410T>C (SBF2)	XP_005253212.1:p.Phe1804Leu
XM_011520394.3:c.5425T>C (SBF2)	XP_011518696.1:p.Phe1809Leu
XM_017018372.2:c.5401T>C (SBF2)	XP_016873861.1:p.Phe1801Leu
XM_017018373.2:c.5401T>C (SBF2)	XP_016873862.1:p.Phe1801Leu
XM_017018374.2:c.5314T>C (SBF2)	XP_016873863.1:p.Phe1772Leu
XM_017018375.2:c.5302T>C (SBF2)	XP_016873864.1:p.Phe1768Leu
XR_001747994.2:n.5550T>C (SBF2)
XR_001748470.1:n.200+940A>G
XR_001748471.1:n.85+940A>G
NM_001386339.1:c.5539T>C (SBF2)	NP_001373268.1:p.Phe1847Leu
NM_001386342.1:c.5314T>C (SBF2)	NP_001373271.1:p.Phe1772Leu
NM_030962.4:c.5443T>C (SBF2) MANE Select	NP_112224.1:p.Phe1815Leu