Canonical Allele Identifier: CA405428786
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733031G>T , CM000681.2:g.35733031G>T GRCh38
NC_000019.9:g.36223932G>T , CM000681.1:g.36223932G>T GRCh37
NC_000019.8:g.40915772G>T NCBI36
NG_052906.1:g.20013G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.788G>T
ENST00000673918.2:c.6416G>T ENSP00000501283.1:p.Arg2139Leu
ENST00000674114.2:c.4023G>T ENSP00000501039.2:n.4023G>T
ENST00000684977.1:c.1700G>T ENSP00000509384.1:p.Arg567Leu
ENST00000689544.1:n.1635G>T
ENST00000691421.1:c.1703G>T ENSP00000508674.1:p.Arg568Leu
ENST00000691855.1:c.6024G>T
ENST00000692961.1:c.6482G>T ENSP00000509289.1:p.Arg2161Leu
ENST00000693677.1:c.705-566G>T ENSP00000509779.1:n.705-566G>T
ENST00000420124.4:c.6482G>T MANE Select ENSP00000398837.2:p.Arg2161Leu
ENST00000673918.1:c.6416G>T ENSP00000501283.1:p.Arg2139Leu
ENST00000674114.1:c.3804G>T
ENST00000420124.2:c.6482G>T ENSP00000398837.1:p.Arg2161Leu
NM_014727.2:c.6482G>T NP_055542.1:p.Arg2161Leu
XM_011527561.1:c.6416G>T XP_011525863.1:p.Arg2139Leu
XM_011527562.1:c.6482G>T XP_011525864.1:p.Arg2161Leu
XM_011527563.1:c.6206G>T XP_011525865.1:p.Arg2069Leu
XM_011527561.2:c.5918G>T XP_011525863.2:p.Arg1973Leu
XM_011527562.2:c.6482G>T XP_011525864.1:p.Arg2161Leu
XM_017027544.1:c.6482G>T XP_016883033.1:p.Arg2161Leu
XM_017027545.1:c.5918G>T XP_016883034.1:p.Arg1973Leu
XM_017027546.1:c.3446G>T XP_016883035.1:p.Arg1149Leu
NM_014727.3:c.6482G>T MANE Select NP_055542.1:p.Arg2161Leu