Canonical Allele Identifier: CA405431523
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733772G>T , CM000681.2:g.35733772G>T GRCh38
NC_000019.9:g.36224673G>T , CM000681.1:g.36224673G>T GRCh37
NC_000019.8:g.40916513G>T NCBI36
NG_052906.1:g.20754G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000592092.2:n.1529G>T
ENST00000673918.2:c.6993G>T ENSP00000501283.1:p.Gln2331His
ENST00000674114.2:c.4600G>T ENSP00000501039.2:n.4600G>T
ENST00000684977.1:c.2254G>T ENSP00000509384.1:n.2254G>T
ENST00000689544.1:n.2300G>T
ENST00000689929.1:c.10G>T
ENST00000691421.1:c.2190G>T ENSP00000508674.1:p.Gln730His
ENST00000691855.1:c.6601G>T
ENST00000692961.1:c.6983G>T ENSP00000509289.1:p.Arg2328Met
ENST00000693175.1:c.10G>T
ENST00000693677.1:c.804G>T ENSP00000509779.1:p.Gln268His
ENST00000420124.4:c.7059G>T MANE Select ENSP00000398837.2:p.Gln2353His
ENST00000673918.1:c.6993G>T ENSP00000501283.1:p.Gln2331His
ENST00000674114.1:c.4381G>T
ENST00000420124.2:c.7059G>T ENSP00000398837.1:p.Gln2353His
ENST00000592092.1:n.439G>T
NM_014727.2:c.7059G>T NP_055542.1:p.Gln2353His
XM_011527561.1:c.6993G>T XP_011525863.1:p.Gln2331His
XM_011527562.1:c.7059G>T XP_011525864.1:p.Gln2353His
XM_011527563.1:c.6783G>T XP_011525865.1:p.Gln2261His
XM_011527561.2:c.6495G>T XP_011525863.2:p.Gln2165His
XM_011527562.2:c.7059G>T XP_011525864.1:p.Gln2353His
XM_017027544.1:c.6969G>T XP_016883033.1:p.Gln2323His
XM_017027545.1:c.6495G>T XP_016883034.1:p.Gln2165His
XM_017027546.1:c.4023G>T XP_016883035.1:p.Gln1341His
NM_014727.3:c.7059G>T MANE Select NP_055542.1:p.Gln2353His