Canonical Allele Identifier: CA405427606
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732847G>T , CM000681.2:g.35732847G>T GRCh38
NC_000019.9:g.36223748G>T , CM000681.1:g.36223748G>T GRCh37
NC_000019.8:g.40915588G>T NCBI36
NG_052906.1:g.19829G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.604G>T
ENST00000673918.2:c.6232G>T ENSP00000501283.1:p.Gly2078Trp
ENST00000674114.2:c.3839G>T ENSP00000501039.2:n.3839G>T
ENST00000684977.1:c.1516G>T ENSP00000509384.1:p.Gly506Trp
ENST00000689544.1:n.1451G>T
ENST00000691421.1:c.1519G>T ENSP00000508674.1:p.Gly507Trp
ENST00000691855.1:c.5840G>T
ENST00000692961.1:c.6298G>T ENSP00000509289.1:p.Gly2100Trp
ENST00000693677.1:c.704+518G>T ENSP00000509779.1:n.704+518G>T
ENST00000420124.4:c.6298G>T MANE Select ENSP00000398837.2:p.Gly2100Trp
ENST00000673918.1:c.6232G>T ENSP00000501283.1:p.Gly2078Trp
ENST00000674114.1:c.3620G>T
ENST00000420124.2:c.6298G>T ENSP00000398837.1:p.Gly2100Trp
NM_014727.2:c.6298G>T NP_055542.1:p.Gly2100Trp
XM_011527561.1:c.6232G>T XP_011525863.1:p.Gly2078Trp
XM_011527562.1:c.6298G>T XP_011525864.1:p.Gly2100Trp
XM_011527563.1:c.6022G>T XP_011525865.1:p.Gly2008Trp
XM_011527561.2:c.5734G>T XP_011525863.2:p.Gly1912Trp
XM_011527562.2:c.6298G>T XP_011525864.1:p.Gly2100Trp
XM_017027544.1:c.6298G>T XP_016883033.1:p.Gly2100Trp
XM_017027545.1:c.5734G>T XP_016883034.1:p.Gly1912Trp
XM_017027546.1:c.3262G>T XP_016883035.1:p.Gly1088Trp
NM_014727.3:c.6298G>T MANE Select NP_055542.1:p.Gly2100Trp