Canonical Allele Identifier: CA405427512
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732830G>T , CM000681.2:g.35732830G>T GRCh38
NC_000019.9:g.36223731G>T , CM000681.1:g.36223731G>T GRCh37
NC_000019.8:g.40915571G>T NCBI36
NG_052906.1:g.19812G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.587G>T
ENST00000673918.2:c.6215G>T ENSP00000501283.1:p.Gly2072Val
ENST00000674114.2:c.3822G>T ENSP00000501039.2:n.3822G>T
ENST00000684977.1:c.1499G>T ENSP00000509384.1:p.Gly500Val
ENST00000689544.1:n.1434G>T
ENST00000691421.1:c.1502G>T ENSP00000508674.1:p.Gly501Val
ENST00000691855.1:c.5823G>T
ENST00000692961.1:c.6281G>T ENSP00000509289.1:p.Gly2094Val
ENST00000693677.1:c.704+501G>T ENSP00000509779.1:n.704+501G>T
ENST00000420124.4:c.6281G>T MANE Select ENSP00000398837.2:p.Gly2094Val
ENST00000673918.1:c.6215G>T ENSP00000501283.1:p.Gly2072Val
ENST00000674114.1:c.3603G>T
ENST00000420124.2:c.6281G>T ENSP00000398837.1:p.Gly2094Val
NM_014727.2:c.6281G>T NP_055542.1:p.Gly2094Val
XM_011527561.1:c.6215G>T XP_011525863.1:p.Gly2072Val
XM_011527562.1:c.6281G>T XP_011525864.1:p.Gly2094Val
XM_011527563.1:c.6005G>T XP_011525865.1:p.Gly2002Val
XM_011527561.2:c.5717G>T XP_011525863.2:p.Gly1906Val
XM_011527562.2:c.6281G>T XP_011525864.1:p.Gly2094Val
XM_017027544.1:c.6281G>T XP_016883033.1:p.Gly2094Val
XM_017027545.1:c.5717G>T XP_016883034.1:p.Gly1906Val
XM_017027546.1:c.3245G>T XP_016883035.1:p.Gly1082Val
NM_014727.3:c.6281G>T MANE Select NP_055542.1:p.Gly2094Val