Canonical Allele Identifier: CA405426055
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732760G>A , CM000681.2:g.35732760G>A GRCh38
NC_000019.9:g.36223661G>A , CM000681.1:g.36223661G>A GRCh37
NC_000019.8:g.40915501G>A NCBI36
NG_052906.1:g.19742G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.517G>A
ENST00000673918.2:c.6145G>A ENSP00000501283.1:p.Glu2049Lys
ENST00000674114.2:c.3752G>A ENSP00000501039.2:n.3752G>A
ENST00000684977.1:c.1429G>A ENSP00000509384.1:p.Glu477Lys
ENST00000689544.1:n.1364G>A
ENST00000691421.1:c.1432G>A ENSP00000508674.1:p.Glu478Lys
ENST00000691855.1:c.5753G>A
ENST00000692961.1:c.6211G>A ENSP00000509289.1:p.Glu2071Lys
ENST00000693677.1:c.704+431G>A ENSP00000509779.1:n.704+431G>A
ENST00000420124.4:c.6211G>A MANE Select ENSP00000398837.2:p.Glu2071Lys
ENST00000673918.1:c.6145G>A ENSP00000501283.1:p.Glu2049Lys
ENST00000674114.1:c.3533G>A
ENST00000420124.2:c.6211G>A ENSP00000398837.1:p.Glu2071Lys
NM_014727.2:c.6211G>A NP_055542.1:p.Glu2071Lys
XM_011527561.1:c.6145G>A XP_011525863.1:p.Glu2049Lys
XM_011527562.1:c.6211G>A XP_011525864.1:p.Glu2071Lys
XM_011527563.1:c.5935G>A XP_011525865.1:p.Glu1979Lys
XM_011527561.2:c.5647G>A XP_011525863.2:p.Glu1883Lys
XM_011527562.2:c.6211G>A XP_011525864.1:p.Glu2071Lys
XM_017027544.1:c.6211G>A XP_016883033.1:p.Glu2071Lys
XM_017027545.1:c.5647G>A XP_016883034.1:p.Glu1883Lys
XM_017027546.1:c.3175G>A XP_016883035.1:p.Glu1059Lys
NM_014727.3:c.6211G>A MANE Select NP_055542.1:p.Glu2071Lys