Canonical Allele Identifier: CA405427739
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732868G>T , CM000681.2:g.35732868G>T GRCh38
NC_000019.9:g.36223769G>T , CM000681.1:g.36223769G>T GRCh37
NC_000019.8:g.40915609G>T NCBI36
NG_052906.1:g.19850G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.625G>T
ENST00000673918.2:c.6253G>T ENSP00000501283.1:p.Glu2085Ter
ENST00000674114.2:c.3860G>T ENSP00000501039.2:n.3860G>T
ENST00000684977.1:c.1537G>T ENSP00000509384.1:p.Glu513Ter
ENST00000689544.1:n.1472G>T
ENST00000691421.1:c.1540G>T ENSP00000508674.1:p.Glu514Ter
ENST00000691855.1:c.5861G>T
ENST00000692961.1:c.6319G>T ENSP00000509289.1:p.Glu2107Ter
ENST00000693677.1:c.704+539G>T ENSP00000509779.1:n.704+539G>T
ENST00000420124.4:c.6319G>T MANE Select ENSP00000398837.2:p.Glu2107Ter
ENST00000673918.1:c.6253G>T ENSP00000501283.1:p.Glu2085Ter
ENST00000674114.1:c.3641G>T
ENST00000420124.2:c.6319G>T ENSP00000398837.1:p.Glu2107Ter
NM_014727.2:c.6319G>T NP_055542.1:p.Glu2107Ter
XM_011527561.1:c.6253G>T XP_011525863.1:p.Glu2085Ter
XM_011527562.1:c.6319G>T XP_011525864.1:p.Glu2107Ter
XM_011527563.1:c.6043G>T XP_011525865.1:p.Glu2015Ter
XM_011527561.2:c.5755G>T XP_011525863.2:p.Glu1919Ter
XM_011527562.2:c.6319G>T XP_011525864.1:p.Glu2107Ter
XM_017027544.1:c.6319G>T XP_016883033.1:p.Glu2107Ter
XM_017027545.1:c.5755G>T XP_016883034.1:p.Glu1919Ter
XM_017027546.1:c.3283G>T XP_016883035.1:p.Glu1095Ter
NM_014727.3:c.6319G>T MANE Select NP_055542.1:p.Glu2107Ter