Canonical Allele Identifier: CA405427202
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732787G>T , CM000681.2:g.35732787G>T GRCh38
NC_000019.9:g.36223688G>T , CM000681.1:g.36223688G>T GRCh37
NC_000019.8:g.40915528G>T NCBI36
NG_052906.1:g.19769G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.544G>T
ENST00000673918.2:c.6172G>T ENSP00000501283.1:p.Gly2058Cys
ENST00000674114.2:c.3779G>T ENSP00000501039.2:n.3779G>T
ENST00000684977.1:c.1456G>T ENSP00000509384.1:p.Gly486Cys
ENST00000689544.1:n.1391G>T
ENST00000691421.1:c.1459G>T ENSP00000508674.1:p.Gly487Cys
ENST00000691855.1:c.5780G>T
ENST00000692961.1:c.6238G>T ENSP00000509289.1:p.Gly2080Cys
ENST00000693677.1:c.704+458G>T ENSP00000509779.1:n.704+458G>T
ENST00000420124.4:c.6238G>T MANE Select ENSP00000398837.2:p.Gly2080Cys
ENST00000673918.1:c.6172G>T ENSP00000501283.1:p.Gly2058Cys
ENST00000674114.1:c.3560G>T
ENST00000420124.2:c.6238G>T ENSP00000398837.1:p.Gly2080Cys
NM_014727.2:c.6238G>T NP_055542.1:p.Gly2080Cys
XM_011527561.1:c.6172G>T XP_011525863.1:p.Gly2058Cys
XM_011527562.1:c.6238G>T XP_011525864.1:p.Gly2080Cys
XM_011527563.1:c.5962G>T XP_011525865.1:p.Gly1988Cys
XM_011527561.2:c.5674G>T XP_011525863.2:p.Gly1892Cys
XM_011527562.2:c.6238G>T XP_011525864.1:p.Gly2080Cys
XM_017027544.1:c.6238G>T XP_016883033.1:p.Gly2080Cys
XM_017027545.1:c.5674G>T XP_016883034.1:p.Gly1892Cys
XM_017027546.1:c.3202G>T XP_016883035.1:p.Gly1068Cys
NM_014727.3:c.6238G>T MANE Select NP_055542.1:p.Gly2080Cys