Canonical Allele Identifier: CA405425171
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732560A>G , CM000681.2:g.35732560A>G GRCh38
NC_000019.9:g.36223461A>G , CM000681.1:g.36223461A>G GRCh37
NC_000019.8:g.40915301A>G NCBI36
NG_052906.1:g.19542A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.317A>G
ENST00000673918.2:c.5945A>G ENSP00000501283.1:p.Gln1982Arg
ENST00000674114.2:c.3552A>G ENSP00000501039.2:n.3552A>G
ENST00000684977.1:c.1229A>G ENSP00000509384.1:p.Gln410Arg
ENST00000689544.1:n.1164A>G
ENST00000691421.1:c.1232A>G ENSP00000508674.1:p.Gln411Arg
ENST00000691855.1:c.5553A>G
ENST00000692961.1:c.6011A>G ENSP00000509289.1:p.Gln2004Arg
ENST00000693677.1:c.704+231A>G ENSP00000509779.1:n.704+231A>G
ENST00000420124.4:c.6011A>G MANE Select ENSP00000398837.2:p.Gln2004Arg
ENST00000673918.1:c.5945A>G ENSP00000501283.1:p.Gln1982Arg
ENST00000674114.1:c.3333A>G
ENST00000420124.2:c.6011A>G ENSP00000398837.1:p.Gln2004Arg
NM_014727.2:c.6011A>G NP_055542.1:p.Gln2004Arg
XM_011527561.1:c.5945A>G XP_011525863.1:p.Gln1982Arg
XM_011527562.1:c.6011A>G XP_011525864.1:p.Gln2004Arg
XM_011527563.1:c.5735A>G XP_011525865.1:p.Gln1912Arg
XM_011527561.2:c.5447A>G XP_011525863.2:p.Gln1816Arg
XM_011527562.2:c.6011A>G XP_011525864.1:p.Gln2004Arg
XM_017027544.1:c.6011A>G XP_016883033.1:p.Gln2004Arg
XM_017027545.1:c.5447A>G XP_016883034.1:p.Gln1816Arg
XM_017027546.1:c.2975A>G XP_016883035.1:p.Gln992Arg
NM_014727.3:c.6011A>G MANE Select NP_055542.1:p.Gln2004Arg