Canonical Allele Identifier: CA1951779606
Community Standard Title: NM_030962.4(SBF2):c.4315C= (p.Gln1439=)
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9808128G= , CM000673.2:g.9808128G= GRCh38
NC_000011.9:g.9829675G= , CM000673.1:g.9829675G= GRCh37
NC_000011.8:g.9786251G= NCBI36
NG_008074.1:g.491080C= , LRG_267:g.491080C=

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.4315C= (SBF2) MANE Select NP_112224.1:p.Gln1439=
ENST00000256190.13:c.4315C= (SBF2) MANE Select ENSP00000256190.8:p.Gln1439=
NM_001386339.1:c.4411C= (SBF2) NP_001373268.1:p.Gln1471=
NM_001386342.1:c.4186C= (SBF2) NP_001373271.1:p.Gln1396=
NM_030962.3:c.4315C= , LRG_267t1:c.4315C= (SBF2) NP_112224.1:p.Gln1439=
NR_036485.1:n.492G= (SBF2-AS1)
ENST00000256190.12:c.4315C= (SBF2) ENSP00000256190.8:p.Gln1439=
ENST00000524961.6:n.799C= (SBF2)
ENST00000528478.1:n.383C= (SBF2)
ENST00000530741.2:c.2878C= (SBF2) ENSP00000432643.2:p.Gln960=
ENST00000532095.2:n.851C= (SBF2)
ENST00000617179.4:c.4174C= (SBF2) ENSP00000482806.1:p.Gln1392=
ENST00000675281.1:c.4390C= (SBF2) ENSP00000502491.1:p.Gln1464=
ENST00000675281.2:c.4390C= (SBF2) ENSP00000502491.1:p.Gln1464=
ENST00000676324.1:c.*623C= (SBF2) ENSP00000502578.1:n.*623C=
ENST00000676324.2:c.*623C= (SBF2) ENSP00000502578.1:n.*623C=
ENST00000676387.1:c.4372C= (SBF2) ENSP00000502779.1:p.Gln1458=
ENST00000676387.2:c.4372C= (SBF2) ENSP00000502779.1:p.Gln1458=
ENST00000688344.1:c.3922C= (SBF2) ENSP00000509987.1:p.Gln1308=
ENST00000689128.1:c.4411C= (SBF2) ENSP00000509587.1:p.Gln1471=
ENST00000689258.1:c.4252C= (SBF2) ENSP00000510475.1:p.Gln1418=
ENST00000689342.1:c.481C= (SBF2)
ENST00000689356.1:n.1486C= (SBF2)
ENST00000689597.1:c.3019C= (SBF2) ENSP00000510781.1:p.Gln1007=
ENST00000689940.1:c.4309C= (SBF2) ENSP00000508452.1:p.Gln1437=
ENST00000690944.1:c.522C= (SBF2)
ENST00000691616.1:n.791C= (SBF2)
ENST00000692716.1:c.4186C= (SBF2) ENSP00000509545.1:p.Gln1396=
ENST00000693541.1:n.1234C= (SBF2)
XM_005253154.3:c.4411C= (SBF2) XP_005253211.1:p.Gln1471=
XM_005253154.5:c.4411C= (SBF2) XP_005253211.1:p.Gln1471=
XM_005253155.3:c.4282C= (SBF2) XP_005253212.1:p.Gln1428=
XM_005253155.5:c.4282C= (SBF2) XP_005253212.1:p.Gln1428=
XM_011520394.1:c.4297C= (SBF2) XP_011518696.1:p.Gln1433=
XM_011520394.3:c.4297C= (SBF2) XP_011518696.1:p.Gln1433=
XM_017018372.2:c.4273C= (SBF2) XP_016873861.1:p.Gln1425=
XM_017018373.2:c.4273C= (SBF2) XP_016873862.1:p.Gln1425=
XM_017018374.2:c.4186C= (SBF2) XP_016873863.1:p.Gln1396=
XM_017018375.2:c.4174C= (SBF2) XP_016873864.1:p.Gln1392=
XR_001747994.2:n.4549C= (SBF2)