Canonical Allele Identifier: CA10635951
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9778799T>G , CM000673.2:g.9778799T>G GRCh38
NC_000011.9:g.9800346T>G , CM000673.1:g.9800346T>G GRCh37
NC_000011.8:g.9756922T>G NCBI36
NG_008074.1:g.520409A>C , LRG_267:g.520409A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000689940.1:c.*1619A>C (SBF2) ENSP00000508452.1:n.*1619A>C
ENST00000690437.1:n.3118A>C (SBF2)
ENST00000690944.1:c.3249A>C (SBF2)
ENST00000692716.1:c.*1619A>C (SBF2) ENSP00000509545.1:n.*1619A>C
ENST00000256190.13:c.*1619A>C (SBF2) MANE Select ENSP00000256190.8:n.*1619A>C
ENST00000676324.1:c.*3477A>C (SBF2) ENSP00000502578.1:n.*3477A>C
ENST00000256190.12:c.*1619A>C (SBF2) ENSP00000256190.8:n.*1619A>C
ENST00000617179.4:c.7028A>C (SBF2) ENSP00000482806.1:n.7028A>C
NM_030962.3:c.*1619A>C , LRG_267t1:c.*1619A>C (SBF2) NP_112224.1:n.*1619A>C
NR_036485.1:n.211+20296T>G (SBF2-AS1)
XM_005253154.3:c.*1619A>C (SBF2) XP_005253211.1:n.*1619A>C
XM_005253155.3:c.*1619A>C (SBF2) XP_005253212.1:n.*1619A>C
XM_011520394.1:c.*1619A>C (SBF2) XP_011518696.1:n.*1619A>C
XM_005253154.5:c.*1619A>C (SBF2) XP_005253211.1:n.*1619A>C
XM_005253155.5:c.*1619A>C (SBF2) XP_005253212.1:n.*1619A>C
XM_011520394.3:c.*1619A>C (SBF2) XP_011518696.1:n.*1619A>C
XM_017018372.2:c.*1619A>C (SBF2) XP_016873861.1:n.*1619A>C
XM_017018373.2:c.*1619A>C (SBF2) XP_016873862.1:n.*1619A>C
XM_017018374.2:c.*1619A>C (SBF2) XP_016873863.1:n.*1619A>C
XM_017018375.2:c.*1619A>C (SBF2) XP_016873864.1:n.*1619A>C
XR_001747994.2:n.7276A>C (SBF2)
NM_001386339.1:c.*1619A>C (SBF2) NP_001373268.1:n.*1619A>C
NM_001386342.1:c.*1619A>C (SBF2) NP_001373271.1:n.*1619A>C
NM_030962.4:c.*1619A>C (SBF2) MANE Select NP_112224.1:n.*1619A>C