Canonical Allele Identifier: CA405429121
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733081G>T , CM000681.2:g.35733081G>T GRCh38
NC_000019.9:g.36223982G>T , CM000681.1:g.36223982G>T GRCh37
NC_000019.8:g.40915822G>T NCBI36
NG_052906.1:g.20063G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.838G>T
ENST00000673918.2:c.6466G>T ENSP00000501283.1:p.Gly2156Cys
ENST00000674114.2:c.4073G>T ENSP00000501039.2:n.4073G>T
ENST00000684977.1:c.1750G>T ENSP00000509384.1:p.Gly584Cys
ENST00000689544.1:n.1685G>T
ENST00000691421.1:c.1753G>T ENSP00000508674.1:p.Gly585Cys
ENST00000691855.1:c.6074G>T
ENST00000692961.1:c.6532G>T ENSP00000509289.1:p.Gly2178Cys
ENST00000693677.1:c.705-516G>T ENSP00000509779.1:n.705-516G>T
ENST00000420124.4:c.6532G>T MANE Select ENSP00000398837.2:p.Gly2178Cys
ENST00000673918.1:c.6466G>T ENSP00000501283.1:p.Gly2156Cys
ENST00000674114.1:c.3854G>T
ENST00000420124.2:c.6532G>T ENSP00000398837.1:p.Gly2178Cys
NM_014727.2:c.6532G>T NP_055542.1:p.Gly2178Cys
XM_011527561.1:c.6466G>T XP_011525863.1:p.Gly2156Cys
XM_011527562.1:c.6532G>T XP_011525864.1:p.Gly2178Cys
XM_011527563.1:c.6256G>T XP_011525865.1:p.Gly2086Cys
XM_011527561.2:c.5968G>T XP_011525863.2:p.Gly1990Cys
XM_011527562.2:c.6532G>T XP_011525864.1:p.Gly2178Cys
XM_017027544.1:c.6532G>T XP_016883033.1:p.Gly2178Cys
XM_017027545.1:c.5968G>T XP_016883034.1:p.Gly1990Cys
XM_017027546.1:c.3496G>T XP_016883035.1:p.Gly1166Cys
NM_014727.3:c.6532G>T MANE Select NP_055542.1:p.Gly2178Cys