Canonical Allele Identifier: CA405428241
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732944G>T , CM000681.2:g.35732944G>T GRCh38
NC_000019.9:g.36223845G>T , CM000681.1:g.36223845G>T GRCh37
NC_000019.8:g.40915685G>T NCBI36
NG_052906.1:g.19926G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.701G>T
ENST00000673918.2:c.6329G>T ENSP00000501283.1:p.Arg2110Ile
ENST00000674114.2:c.3936G>T ENSP00000501039.2:n.3936G>T
ENST00000684977.1:c.1613G>T ENSP00000509384.1:p.Arg538Ile
ENST00000689544.1:n.1548G>T
ENST00000691421.1:c.1616G>T ENSP00000508674.1:p.Arg539Ile
ENST00000691855.1:c.5937G>T
ENST00000692961.1:c.6395G>T ENSP00000509289.1:p.Arg2132Ile
ENST00000693677.1:c.704+615G>T ENSP00000509779.1:n.704+615G>T
ENST00000420124.4:c.6395G>T MANE Select ENSP00000398837.2:p.Arg2132Ile
ENST00000673918.1:c.6329G>T ENSP00000501283.1:p.Arg2110Ile
ENST00000674114.1:c.3717G>T
ENST00000420124.2:c.6395G>T ENSP00000398837.1:p.Arg2132Ile
NM_014727.2:c.6395G>T NP_055542.1:p.Arg2132Ile
XM_011527561.1:c.6329G>T XP_011525863.1:p.Arg2110Ile
XM_011527562.1:c.6395G>T XP_011525864.1:p.Arg2132Ile
XM_011527563.1:c.6119G>T XP_011525865.1:p.Arg2040Ile
XM_011527561.2:c.5831G>T XP_011525863.2:p.Arg1944Ile
XM_011527562.2:c.6395G>T XP_011525864.1:p.Arg2132Ile
XM_017027544.1:c.6395G>T XP_016883033.1:p.Arg2132Ile
XM_017027545.1:c.5831G>T XP_016883034.1:p.Arg1944Ile
XM_017027546.1:c.3359G>T XP_016883035.1:p.Arg1120Ile
NM_014727.3:c.6395G>T MANE Select NP_055542.1:p.Arg2132Ile