Canonical Allele Identifier: CA405426106
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732782C>A , CM000681.2:g.35732782C>A GRCh38
NC_000019.9:g.36223683C>A , CM000681.1:g.36223683C>A GRCh37
NC_000019.8:g.40915523C>A NCBI36
NG_052906.1:g.19764C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.539C>A
ENST00000673918.2:c.6167C>A ENSP00000501283.1:p.Pro2056His
ENST00000674114.2:c.3774C>A ENSP00000501039.2:n.3774C>A
ENST00000684977.1:c.1451C>A ENSP00000509384.1:p.Pro484His
ENST00000689544.1:n.1386C>A
ENST00000691421.1:c.1454C>A ENSP00000508674.1:p.Pro485His
ENST00000691855.1:c.5775C>A
ENST00000692961.1:c.6233C>A ENSP00000509289.1:p.Pro2078His
ENST00000693677.1:c.704+453C>A ENSP00000509779.1:n.704+453C>A
ENST00000420124.4:c.6233C>A MANE Select ENSP00000398837.2:p.Pro2078His
ENST00000673918.1:c.6167C>A ENSP00000501283.1:p.Pro2056His
ENST00000674114.1:c.3555C>A
ENST00000420124.2:c.6233C>A ENSP00000398837.1:p.Pro2078His
NM_014727.2:c.6233C>A NP_055542.1:p.Pro2078His
XM_011527561.1:c.6167C>A XP_011525863.1:p.Pro2056His
XM_011527562.1:c.6233C>A XP_011525864.1:p.Pro2078His
XM_011527563.1:c.5957C>A XP_011525865.1:p.Pro1986His
XM_011527561.2:c.5669C>A XP_011525863.2:p.Pro1890His
XM_011527562.2:c.6233C>A XP_011525864.1:p.Pro2078His
XM_017027544.1:c.6233C>A XP_016883033.1:p.Pro2078His
XM_017027545.1:c.5669C>A XP_016883034.1:p.Pro1890His
XM_017027546.1:c.3197C>A XP_016883035.1:p.Pro1066His
NM_014727.3:c.6233C>A MANE Select NP_055542.1:p.Pro2078His