Canonical Allele Identifier: CA405424698
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732491A>G , CM000681.2:g.35732491A>G GRCh38
NC_000019.9:g.36223392A>G , CM000681.1:g.36223392A>G GRCh37
NC_000019.8:g.40915232A>G NCBI36
NG_052906.1:g.19473A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.248A>G
ENST00000673918.2:c.5876A>G ENSP00000501283.1:p.Glu1959Gly
ENST00000674114.2:c.3483A>G ENSP00000501039.2:n.3483A>G
ENST00000684977.1:c.1160A>G ENSP00000509384.1:p.Glu387Gly
ENST00000689544.1:n.1095A>G
ENST00000691421.1:c.1163A>G ENSP00000508674.1:p.Glu388Gly
ENST00000691855.1:c.5484A>G
ENST00000692961.1:c.5942A>G ENSP00000509289.1:p.Glu1981Gly
ENST00000693677.1:c.704+162A>G ENSP00000509779.1:n.704+162A>G
ENST00000420124.4:c.5942A>G MANE Select ENSP00000398837.2:p.Glu1981Gly
ENST00000673918.1:c.5876A>G ENSP00000501283.1:p.Glu1959Gly
ENST00000674114.1:c.3264A>G
ENST00000420124.2:c.5942A>G ENSP00000398837.1:p.Glu1981Gly
NM_014727.2:c.5942A>G NP_055542.1:p.Glu1981Gly
XM_011527561.1:c.5876A>G XP_011525863.1:p.Glu1959Gly
XM_011527562.1:c.5942A>G XP_011525864.1:p.Glu1981Gly
XM_011527563.1:c.5666A>G XP_011525865.1:p.Glu1889Gly
XM_011527561.2:c.5378A>G XP_011525863.2:p.Glu1793Gly
XM_011527562.2:c.5942A>G XP_011525864.1:p.Glu1981Gly
XM_017027544.1:c.5942A>G XP_016883033.1:p.Glu1981Gly
XM_017027545.1:c.5378A>G XP_016883034.1:p.Glu1793Gly
XM_017027546.1:c.2906A>G XP_016883035.1:p.Glu969Gly
NM_014727.3:c.5942A>G MANE Select NP_055542.1:p.Glu1981Gly