Canonical Allele Identifier: CA1979496377
Community Standard Title: NM_006842.3(SF3B2):c.2099A= (p.Glu700=)
Gene: SF3B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66063413A= , CM000673.2:g.66063413A= GRCh38
NC_000011.9:g.65830884A= , CM000673.1:g.65830884A= GRCh37
NC_000011.8:g.65587460A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006842.3:c.2099A= MANE Select NP_006833.2:p.Glu700=
ENST00000322535.11:c.2099A= MANE Select ENSP00000318861.6:p.Glu700=
NM_006842.2:c.2099A= NP_006833.2:p.Glu700=
ENST00000322535.10:c.2099A= ENSP00000318861.6:p.Glu700=
ENST00000528302.5:c.2048A= ENSP00000432655.1:p.Glu683=
ENST00000530981.1:c.361A=
ENST00000610523.4:c.2027A= ENSP00000482986.1:p.Glu676=
XM_005273726.2:c.2096A= XP_005273783.1:p.Glu699=
XM_005273726.4:c.2096A= XP_005273783.1:p.Glu699=
XM_011544740.1:c.2096A= XP_011543042.1:p.Glu699=
XM_011544740.3:c.2096A= XP_011543042.1:p.Glu699=
XM_017017144.2:c.2093A= XP_016872633.1:p.Glu698=