Canonical Allele Identifier: CA405429600
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733176A>T , CM000681.2:g.35733176A>T GRCh38
NC_000019.9:g.36224077A>T , CM000681.1:g.36224077A>T GRCh37
NC_000019.8:g.40915917A>T NCBI36
NG_052906.1:g.20158A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.933A>T
ENST00000673918.2:c.6561A>T ENSP00000501283.1:p.Glu2187Asp
ENST00000674114.2:c.4168A>T ENSP00000501039.2:n.4168A>T
ENST00000684977.1:c.1845A>T ENSP00000509384.1:p.Glu615Asp
ENST00000689544.1:n.1780A>T
ENST00000691421.1:c.1848A>T ENSP00000508674.1:p.Glu616Asp
ENST00000691855.1:c.6169A>T
ENST00000692961.1:c.6627A>T ENSP00000509289.1:p.Glu2209Asp
ENST00000693677.1:c.705-421A>T ENSP00000509779.1:n.705-421A>T
ENST00000420124.4:c.6627A>T MANE Select ENSP00000398837.2:p.Glu2209Asp
ENST00000673918.1:c.6561A>T ENSP00000501283.1:p.Glu2187Asp
ENST00000674114.1:c.3949A>T
ENST00000420124.2:c.6627A>T ENSP00000398837.1:p.Glu2209Asp
NM_014727.2:c.6627A>T NP_055542.1:p.Glu2209Asp
XM_011527561.1:c.6561A>T XP_011525863.1:p.Glu2187Asp
XM_011527562.1:c.6627A>T XP_011525864.1:p.Glu2209Asp
XM_011527563.1:c.6351A>T XP_011525865.1:p.Glu2117Asp
XM_011527561.2:c.6063A>T XP_011525863.2:p.Glu2021Asp
XM_011527562.2:c.6627A>T XP_011525864.1:p.Glu2209Asp
XM_017027544.1:c.6627A>T XP_016883033.1:p.Glu2209Asp
XM_017027545.1:c.6063A>T XP_016883034.1:p.Glu2021Asp
XM_017027546.1:c.3591A>T XP_016883035.1:p.Glu1197Asp
NM_014727.3:c.6627A>T MANE Select NP_055542.1:p.Glu2209Asp