Canonical Allele Identifier: CA405427854
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732884A>G , CM000681.2:g.35732884A>G GRCh38
NC_000019.9:g.36223785A>G , CM000681.1:g.36223785A>G GRCh37
NC_000019.8:g.40915625A>G NCBI36
NG_052906.1:g.19866A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.641A>G
ENST00000673918.2:c.6269A>G ENSP00000501283.1:p.Glu2090Gly
ENST00000674114.2:c.3876A>G ENSP00000501039.2:n.3876A>G
ENST00000684977.1:c.1553A>G ENSP00000509384.1:p.Glu518Gly
ENST00000689544.1:n.1488A>G
ENST00000691421.1:c.1556A>G ENSP00000508674.1:p.Glu519Gly
ENST00000691855.1:c.5877A>G
ENST00000692961.1:c.6335A>G ENSP00000509289.1:p.Glu2112Gly
ENST00000693677.1:c.704+555A>G ENSP00000509779.1:n.704+555A>G
ENST00000420124.4:c.6335A>G MANE Select ENSP00000398837.2:p.Glu2112Gly
ENST00000673918.1:c.6269A>G ENSP00000501283.1:p.Glu2090Gly
ENST00000674114.1:c.3657A>G
ENST00000420124.2:c.6335A>G ENSP00000398837.1:p.Glu2112Gly
NM_014727.2:c.6335A>G NP_055542.1:p.Glu2112Gly
XM_011527561.1:c.6269A>G XP_011525863.1:p.Glu2090Gly
XM_011527562.1:c.6335A>G XP_011525864.1:p.Glu2112Gly
XM_011527563.1:c.6059A>G XP_011525865.1:p.Glu2020Gly
XM_011527561.2:c.5771A>G XP_011525863.2:p.Glu1924Gly
XM_011527562.2:c.6335A>G XP_011525864.1:p.Glu2112Gly
XM_017027544.1:c.6335A>G XP_016883033.1:p.Glu2112Gly
XM_017027545.1:c.5771A>G XP_016883034.1:p.Glu1924Gly
XM_017027546.1:c.3299A>G XP_016883035.1:p.Glu1100Gly
NM_014727.3:c.6335A>G MANE Select NP_055542.1:p.Glu2112Gly