Canonical Allele Identifier: CA217608429
Community Standard Title: NM_030962.4(SBF2):c.4932T>C (p.Ser1644=)
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9789109A>G , CM000673.2:g.9789109A>G GRCh38
NC_000011.9:g.9810656A>G , CM000673.1:g.9810656A>G GRCh37
NC_000011.8:g.9767232A>G NCBI36
NG_008074.1:g.510099T>C , LRG_267:g.510099T>C

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.4932T>C (SBF2) MANE Select NP_112224.1:p.Ser1644=
ENST00000256190.13:c.4932T>C (SBF2) MANE Select ENSP00000256190.8:p.Ser1644=
NM_001386339.1:c.5028T>C (SBF2) NP_001373268.1:p.Ser1676=
NM_001386342.1:c.4803T>C (SBF2) NP_001373271.1:p.Ser1601=
NM_030962.3:c.4932T>C , LRG_267t1:c.4932T>C (SBF2) NP_112224.1:p.Ser1644=
NR_036485.1:n.212-18739A>G (SBF2-AS1)
ENST00000256190.12:c.4932T>C (SBF2) ENSP00000256190.8:p.Ser1644=
ENST00000524961.6:n.1416T>C (SBF2)
ENST00000532095.1:c.96T>C (SBF2) ENSP00000434620.1:p.Ser32=
ENST00000532095.2:n.1468T>C (SBF2)
ENST00000617179.4:c.4791T>C (SBF2) ENSP00000482806.1:p.Ser1597=
ENST00000675281.1:c.5007T>C (SBF2) ENSP00000502491.1:p.Ser1669=
ENST00000675281.2:c.5007T>C (SBF2) ENSP00000502491.1:p.Ser1669=
ENST00000676324.1:c.*1240T>C (SBF2) ENSP00000502578.1:n.*1240T>C
ENST00000676324.2:c.*1240T>C (SBF2) ENSP00000502578.1:n.*1240T>C
ENST00000676387.1:c.4989T>C (SBF2) ENSP00000502779.1:p.Ser1663=
ENST00000676387.2:c.4989T>C (SBF2) ENSP00000502779.1:p.Ser1663=
ENST00000688344.1:c.4539T>C (SBF2) ENSP00000509987.1:p.Ser1513=
ENST00000689128.1:c.5028T>C (SBF2) ENSP00000509587.1:p.Ser1676=
ENST00000689258.1:c.4869T>C (SBF2) ENSP00000510475.1:p.Ser1623=
ENST00000689342.1:c.1098T>C (SBF2)
ENST00000689356.1:n.2103T>C (SBF2)
ENST00000689597.1:c.3636T>C (SBF2) ENSP00000510781.1:p.Ser1212=
ENST00000689940.1:c.4926T>C (SBF2) ENSP00000508452.1:p.Ser1642=
ENST00000690944.1:c.1012T>C (SBF2)
ENST00000691616.1:n.1408T>C (SBF2)
ENST00000692716.1:c.4803T>C (SBF2) ENSP00000509545.1:p.Ser1601=
ENST00000693541.1:n.1851T>C (SBF2)
XM_005253154.3:c.5028T>C (SBF2) XP_005253211.1:p.Ser1676=
XM_005253154.5:c.5028T>C (SBF2) XP_005253211.1:p.Ser1676=
XM_005253155.3:c.4899T>C (SBF2) XP_005253212.1:p.Ser1633=
XM_005253155.5:c.4899T>C (SBF2) XP_005253212.1:p.Ser1633=
XM_011520394.1:c.4914T>C (SBF2) XP_011518696.1:p.Ser1638=
XM_011520394.3:c.4914T>C (SBF2) XP_011518696.1:p.Ser1638=
XM_017018372.2:c.4890T>C (SBF2) XP_016873861.1:p.Ser1630=
XM_017018373.2:c.4890T>C (SBF2) XP_016873862.1:p.Ser1630=
XM_017018374.2:c.4803T>C (SBF2) XP_016873863.1:p.Ser1601=
XM_017018375.2:c.4791T>C (SBF2) XP_016873864.1:p.Ser1597=
XR_001747994.2:n.5039T>C (SBF2)
XR_931024.1:n.456-1760A>G
XR_931025.1:n.271-1760A>G