Canonical Allele Identifier: CA597901307
Community Standard Title: NM_030962.4(SBF2):c.5231+19C>T
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9785106G>A , CM000673.2:g.9785106G>A GRCh38
NC_000011.9:g.9806653G>A , CM000673.1:g.9806653G>A GRCh37
NC_000011.8:g.9763229G>A NCBI36
NG_008074.1:g.514102C>T , LRG_267:g.514102C>T

Transcript Alleles

HGVS Amino-acid Change
NM_030962.4:c.5231+19C>T (SBF2) MANE Select NP_112224.1:n.5231+19C>T
ENST00000256190.13:c.5231+19C>T (SBF2) MANE Select ENSP00000256190.8:n.5231+19C>T
NM_001386339.1:c.5327+19C>T (SBF2) NP_001373268.1:n.5327+19C>T
NM_001386342.1:c.5102+19C>T (SBF2) NP_001373271.1:n.5102+19C>T
NM_030962.3:c.5231+19C>T , LRG_267t1:c.5231+19C>T (SBF2) NP_112224.1:n.5231+19C>T
NR_036485.1:n.212-22742G>A (SBF2-AS1)
ENST00000256190.12:c.5231+19C>T (SBF2) ENSP00000256190.8:n.5231+19C>T
ENST00000524961.6:n.1715+19C>T (SBF2)
ENST00000525040.5:n.534+19C>T (SBF2)
ENST00000529587.1:n.225+19C>T (SBF2)
ENST00000529587.2:n.225+19C>T (SBF2)
ENST00000532095.1:c.414C>T (SBF2) ENSP00000434620.1:n.414C>T
ENST00000532095.2:n.1786C>T (SBF2)
ENST00000617179.4:c.5090+19C>T (SBF2) ENSP00000482806.1:n.5090+19C>T
ENST00000675281.1:c.5306+19C>T (SBF2) ENSP00000502491.1:n.5306+19C>T
ENST00000675281.2:c.5306+19C>T (SBF2) ENSP00000502491.1:n.5306+19C>T
ENST00000676324.1:c.*1539+19C>T (SBF2) ENSP00000502578.1:n.*1539+19C>T
ENST00000676324.2:c.*1539+19C>T (SBF2) ENSP00000502578.1:n.*1539+19C>T
ENST00000676387.1:c.5288+19C>T (SBF2) ENSP00000502779.1:n.5288+19C>T
ENST00000676387.2:c.5288+19C>T (SBF2) ENSP00000502779.1:n.5288+19C>T
ENST00000688344.1:c.4838+19C>T (SBF2) ENSP00000509987.1:n.4838+19C>T
ENST00000689128.1:c.5327+19C>T (SBF2) ENSP00000509587.1:n.5327+19C>T
ENST00000689258.1:c.5168+19C>T (SBF2) ENSP00000510475.1:n.5168+19C>T
ENST00000689342.1:c.1397+19C>T (SBF2)
ENST00000689356.1:n.2402+19C>T (SBF2)
ENST00000689597.1:c.3954C>T (SBF2) ENSP00000510781.1:n.3954C>T
ENST00000689940.1:c.5225+19C>T (SBF2) ENSP00000508452.1:n.5225+19C>T
ENST00000690944.1:c.1311+19C>T (SBF2)
ENST00000691616.1:n.1707+19C>T (SBF2)
ENST00000692716.1:c.5102+19C>T (SBF2) ENSP00000509545.1:n.5102+19C>T
ENST00000693541.1:n.2150+19C>T (SBF2)
XM_005253154.3:c.5327+19C>T (SBF2) XP_005253211.1:n.5327+19C>T
XM_005253154.5:c.5327+19C>T (SBF2) XP_005253211.1:n.5327+19C>T
XM_005253155.3:c.5198+19C>T (SBF2) XP_005253212.1:n.5198+19C>T
XM_005253155.5:c.5198+19C>T (SBF2) XP_005253212.1:n.5198+19C>T
XM_011520394.1:c.5213+19C>T (SBF2) XP_011518696.1:n.5213+19C>T
XM_011520394.3:c.5213+19C>T (SBF2) XP_011518696.1:n.5213+19C>T
XM_017018372.2:c.5189+19C>T (SBF2) XP_016873861.1:n.5189+19C>T
XM_017018373.2:c.5189+19C>T (SBF2) XP_016873862.1:n.5189+19C>T
XM_017018374.2:c.5102+19C>T (SBF2) XP_016873863.1:n.5102+19C>T
XM_017018375.2:c.5090+19C>T (SBF2) XP_016873864.1:n.5090+19C>T
XR_001747994.2:n.5338+19C>T (SBF2)
XR_931024.1:n.455+330G>A
XR_931025.1:n.270+1997G>A