Canonical Allele Identifier: CA405425314
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732580G>A , CM000681.2:g.35732580G>A GRCh38
NC_000019.9:g.36223481G>A , CM000681.1:g.36223481G>A GRCh37
NC_000019.8:g.40915321G>A NCBI36
NG_052906.1:g.19562G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.337G>A
ENST00000673918.2:c.5965G>A ENSP00000501283.1:p.Gly1989Arg
ENST00000674114.2:c.3572G>A ENSP00000501039.2:n.3572G>A
ENST00000684977.1:c.1249G>A ENSP00000509384.1:p.Gly417Arg
ENST00000689544.1:n.1184G>A
ENST00000691421.1:c.1252G>A ENSP00000508674.1:p.Gly418Arg
ENST00000691855.1:c.5573G>A
ENST00000692961.1:c.6031G>A ENSP00000509289.1:p.Gly2011Arg
ENST00000693677.1:c.704+251G>A ENSP00000509779.1:n.704+251G>A
ENST00000420124.4:c.6031G>A MANE Select ENSP00000398837.2:p.Gly2011Arg
ENST00000673918.1:c.5965G>A ENSP00000501283.1:p.Gly1989Arg
ENST00000674114.1:c.3353G>A
ENST00000420124.2:c.6031G>A ENSP00000398837.1:p.Gly2011Arg
NM_014727.2:c.6031G>A NP_055542.1:p.Gly2011Arg
XM_011527561.1:c.5965G>A XP_011525863.1:p.Gly1989Arg
XM_011527562.1:c.6031G>A XP_011525864.1:p.Gly2011Arg
XM_011527563.1:c.5755G>A XP_011525865.1:p.Gly1919Arg
XM_011527561.2:c.5467G>A XP_011525863.2:p.Gly1823Arg
XM_011527562.2:c.6031G>A XP_011525864.1:p.Gly2011Arg
XM_017027544.1:c.6031G>A XP_016883033.1:p.Gly2011Arg
XM_017027545.1:c.5467G>A XP_016883034.1:p.Gly1823Arg
XM_017027546.1:c.2995G>A XP_016883035.1:p.Gly999Arg
NM_014727.3:c.6031G>A MANE Select NP_055542.1:p.Gly2011Arg