Canonical Allele Identifier: CA16613653
Gene: SBF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 403862
ClinVar RCV Id: RCV000471792
dbSNP Id: rs1060500001
gnomAD v4: 11-9853539-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9853539C>T , CM000673.2:g.9853539C>T GRCh38
NC_000011.9:g.9875086C>T , CM000673.1:g.9875086C>T GRCh37
NC_000011.8:g.9831662C>T NCBI36
NG_008074.1:g.445669G>A , LRG_267:g.445669G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000420722.3:c.1240+1G>A ENSP00000410478.3:n.1240+1G>A
ENST00000530741.2:c.1240+1G>A ENSP00000432643.2:n.1240+1G>A
ENST00000533770.6:c.2536+1G>A ENSP00000509247.1:n.2536+1G>A
ENST00000675281.2:c.2536+1G>A ENSP00000502491.1:n.2536+1G>A
ENST00000676324.2:c.2536+1G>A ENSP00000502578.1:n.2536+1G>A
ENST00000676387.2:c.2422+1G>A ENSP00000502779.1:n.2422+1G>A
ENST00000688344.1:c.2143+1G>A ENSP00000509987.1:n.2143+1G>A
ENST00000688417.1:n.2687G>A
ENST00000689128.1:c.2536+1G>A ENSP00000509587.1:n.2536+1G>A
ENST00000689258.1:c.2398+1G>A ENSP00000510475.1:n.2398+1G>A
ENST00000689597.1:c.1240+1G>A ENSP00000510781.1:n.1240+1G>A
ENST00000689674.1:c.1240+1G>A ENSP00000510723.1:n.1240+1G>A
ENST00000689940.1:c.2530+1G>A ENSP00000508452.1:n.2530+1G>A
ENST00000690003.1:c.1240+1G>A ENSP00000508748.1:n.1240+1G>A
ENST00000692716.1:c.2407+1G>A ENSP00000509545.1:n.2407+1G>A
ENST00000693181.1:c.1240+1G>A ENSP00000510179.1:n.1240+1G>A
ENST00000256190.13:c.2536+1G>A MANE Select ENSP00000256190.8:n.2536+1G>A
ENST00000675281.1:c.2536+1G>A ENSP00000502491.1:n.2536+1G>A
ENST00000676324.1:c.2536+1G>A ENSP00000502578.1:n.2536+1G>A
ENST00000676387.1:c.2422+1G>A ENSP00000502779.1:n.2422+1G>A
ENST00000256190.12:c.2536+1G>A ENSP00000256190.8:n.2536+1G>A
ENST00000533770.5:n.2451+1G>A
ENST00000617179.4:c.2395+1G>A ENSP00000482806.1:n.2395+1G>A
NM_030962.3:c.2536+1G>A , LRG_267t1:c.2536+1G>A NP_112224.1:n.2536+1G>A
NR_120539.1:n.135+14263C>T
XM_005253154.3:c.2536+1G>A XP_005253211.1:n.2536+1G>A
XM_005253155.3:c.2407+1G>A XP_005253212.1:n.2407+1G>A
XM_011520394.1:c.2422+1G>A XP_011518696.1:n.2422+1G>A
XM_011520395.1:c.2536+1G>A XP_011518697.1:n.2536+1G>A
XM_011520396.1:c.2536+1G>A XP_011518698.1:n.2536+1G>A
XM_005253154.5:c.2536+1G>A XP_005253211.1:n.2536+1G>A
XM_005253155.5:c.2407+1G>A XP_005253212.1:n.2407+1G>A
XM_011520394.3:c.2422+1G>A XP_011518696.1:n.2422+1G>A
XM_011520395.3:c.2536+1G>A XP_011518697.1:n.2536+1G>A
XM_011520396.3:c.2536+1G>A XP_011518698.1:n.2536+1G>A
XM_017018372.2:c.2398+1G>A XP_016873861.1:n.2398+1G>A
XM_017018373.2:c.2398+1G>A XP_016873862.1:n.2398+1G>A
XM_017018374.2:c.2407+1G>A XP_016873863.1:n.2407+1G>A
XM_017018375.2:c.2536+1G>A XP_016873864.1:n.2536+1G>A
XM_017018376.2:c.2536+1G>A XP_016873865.1:n.2536+1G>A
XM_017018377.2:c.2536+1G>A XP_016873866.1:n.2536+1G>A
XR_001747994.2:n.2674+1G>A
NM_001386339.1:c.2536+1G>A NP_001373268.1:n.2536+1G>A
NM_001386342.1:c.2407+1G>A NP_001373271.1:n.2407+1G>A
NM_030962.4:c.2536+1G>A MANE Select NP_112224.1:n.2536+1G>A