Canonical Allele Identifier: CA405424353
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732431C>A , CM000681.2:g.35732431C>A GRCh38
NC_000019.9:g.36223332C>A , CM000681.1:g.36223332C>A GRCh37
NC_000019.8:g.40915172C>A NCBI36
NG_052906.1:g.19413C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.188C>A
ENST00000673918.2:c.5816C>A ENSP00000501283.1:p.Pro1939His
ENST00000674114.2:c.3423C>A ENSP00000501039.2:n.3423C>A
ENST00000684977.1:c.1100C>A ENSP00000509384.1:p.Pro367His
ENST00000689544.1:n.1035C>A
ENST00000691421.1:c.1103C>A ENSP00000508674.1:p.Pro368His
ENST00000691855.1:c.5424C>A
ENST00000692961.1:c.5882C>A ENSP00000509289.1:p.Pro1961His
ENST00000693677.1:c.704+102C>A ENSP00000509779.1:n.704+102C>A
ENST00000420124.4:c.5882C>A MANE Select ENSP00000398837.2:p.Pro1961His
ENST00000673918.1:c.5816C>A ENSP00000501283.1:p.Pro1939His
ENST00000674114.1:c.3204C>A
ENST00000420124.2:c.5882C>A ENSP00000398837.1:p.Pro1961His
NM_014727.2:c.5882C>A NP_055542.1:p.Pro1961His
XM_011527561.1:c.5816C>A XP_011525863.1:p.Pro1939His
XM_011527562.1:c.5882C>A XP_011525864.1:p.Pro1961His
XM_011527563.1:c.5606C>A XP_011525865.1:p.Pro1869His
XM_011527561.2:c.5318C>A XP_011525863.2:p.Pro1773His
XM_011527562.2:c.5882C>A XP_011525864.1:p.Pro1961His
XM_017027544.1:c.5882C>A XP_016883033.1:p.Pro1961His
XM_017027545.1:c.5318C>A XP_016883034.1:p.Pro1773His
XM_017027546.1:c.2846C>A XP_016883035.1:p.Pro949His
NM_014727.3:c.5882C>A MANE Select NP_055542.1:p.Pro1961His