Canonical Allele Identifier: CA405427497
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732829G>T , CM000681.2:g.35732829G>T GRCh38
NC_000019.9:g.36223730G>T , CM000681.1:g.36223730G>T GRCh37
NC_000019.8:g.40915570G>T NCBI36
NG_052906.1:g.19811G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.586G>T
ENST00000673918.2:c.6214G>T ENSP00000501283.1:p.Gly2072Trp
ENST00000674114.2:c.3821G>T ENSP00000501039.2:n.3821G>T
ENST00000684977.1:c.1498G>T ENSP00000509384.1:p.Gly500Trp
ENST00000689544.1:n.1433G>T
ENST00000691421.1:c.1501G>T ENSP00000508674.1:p.Gly501Trp
ENST00000691855.1:c.5822G>T
ENST00000692961.1:c.6280G>T ENSP00000509289.1:p.Gly2094Trp
ENST00000693677.1:c.704+500G>T ENSP00000509779.1:n.704+500G>T
ENST00000420124.4:c.6280G>T MANE Select ENSP00000398837.2:p.Gly2094Trp
ENST00000673918.1:c.6214G>T ENSP00000501283.1:p.Gly2072Trp
ENST00000674114.1:c.3602G>T
ENST00000420124.2:c.6280G>T ENSP00000398837.1:p.Gly2094Trp
NM_014727.2:c.6280G>T NP_055542.1:p.Gly2094Trp
XM_011527561.1:c.6214G>T XP_011525863.1:p.Gly2072Trp
XM_011527562.1:c.6280G>T XP_011525864.1:p.Gly2094Trp
XM_011527563.1:c.6004G>T XP_011525865.1:p.Gly2002Trp
XM_011527561.2:c.5716G>T XP_011525863.2:p.Gly1906Trp
XM_011527562.2:c.6280G>T XP_011525864.1:p.Gly2094Trp
XM_017027544.1:c.6280G>T XP_016883033.1:p.Gly2094Trp
XM_017027545.1:c.5716G>T XP_016883034.1:p.Gly1906Trp
XM_017027546.1:c.3244G>T XP_016883035.1:p.Gly1082Trp
NM_014727.3:c.6280G>T MANE Select NP_055542.1:p.Gly2094Trp