Canonical Allele Identifier: CA2612441223
Gene: SBF2 HGNC NCBI

Linked Data

gnomAD v4: 11-9832200-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9832200A>T , CM000673.2:g.9832200A>T GRCh38
NC_000011.9:g.9853747A>T , CM000673.1:g.9853747A>T GRCh37
NC_000011.8:g.9810323A>T NCBI36
NG_008074.1:g.467008T>A , LRG_267:g.467008T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000530741.2:c.2356+24T>A ENSP00000432643.2:n.2356+24T>A
ENST00000675281.2:c.3652+24T>A ENSP00000502491.1:n.3652+24T>A
ENST00000676324.2:c.3652+24T>A ENSP00000502578.1:n.3652+24T>A
ENST00000676387.2:c.3538+24T>A ENSP00000502779.1:n.3538+24T>A
ENST00000688344.1:c.3259+24T>A ENSP00000509987.1:n.3259+24T>A
ENST00000689128.1:c.3652+24T>A ENSP00000509587.1:n.3652+24T>A
ENST00000689258.1:c.3514+24T>A ENSP00000510475.1:n.3514+24T>A
ENST00000689356.1:n.823+24T>A
ENST00000689597.1:c.2356+24T>A ENSP00000510781.1:n.2356+24T>A
ENST00000689940.1:c.3646+24T>A ENSP00000508452.1:n.3646+24T>A
ENST00000692716.1:c.3523+24T>A ENSP00000509545.1:n.3523+24T>A
ENST00000256190.13:c.3652+24T>A MANE Select ENSP00000256190.8:n.3652+24T>A
ENST00000675281.1:c.3652+24T>A ENSP00000502491.1:n.3652+24T>A
ENST00000676324.1:c.3652+24T>A ENSP00000502578.1:n.3652+24T>A
ENST00000676387.1:c.3538+24T>A ENSP00000502779.1:n.3538+24T>A
ENST00000256190.12:c.3652+24T>A ENSP00000256190.8:n.3652+24T>A
ENST00000530741.1:c.303+24T>A
ENST00000617179.4:c.3511+24T>A ENSP00000482806.1:n.3511+24T>A
NM_030962.3:c.3652+24T>A , LRG_267t1:c.3652+24T>A NP_112224.1:n.3652+24T>A
XM_005253154.3:c.3652+24T>A XP_005253211.1:n.3652+24T>A
XM_005253155.3:c.3523+24T>A XP_005253212.1:n.3523+24T>A
XM_011520394.1:c.3538+24T>A XP_011518696.1:n.3538+24T>A
XM_011520395.1:c.3652+24T>A XP_011518697.1:n.3652+24T>A
XM_005253154.5:c.3652+24T>A XP_005253211.1:n.3652+24T>A
XM_005253155.5:c.3523+24T>A XP_005253212.1:n.3523+24T>A
XM_011520394.3:c.3538+24T>A XP_011518696.1:n.3538+24T>A
XM_011520395.3:c.3652+24T>A XP_011518697.1:n.3652+24T>A
XM_017018372.2:c.3514+24T>A XP_016873861.1:n.3514+24T>A
XM_017018373.2:c.3514+24T>A XP_016873862.1:n.3514+24T>A
XM_017018374.2:c.3523+24T>A XP_016873863.1:n.3523+24T>A
XM_017018375.2:c.3652+24T>A XP_016873864.1:n.3652+24T>A
XM_017018376.2:c.3652+24T>A XP_016873865.1:n.3652+24T>A
XR_001747994.2:n.3790+24T>A
NM_001386339.1:c.3652+24T>A NP_001373268.1:n.3652+24T>A
NM_001386342.1:c.3523+24T>A NP_001373271.1:n.3523+24T>A
NM_030962.4:c.3652+24T>A MANE Select NP_112224.1:n.3652+24T>A