Canonical Allele Identifier: CA405426076
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732768G>T , CM000681.2:g.35732768G>T GRCh38
NC_000019.9:g.36223669G>T , CM000681.1:g.36223669G>T GRCh37
NC_000019.8:g.40915509G>T NCBI36
NG_052906.1:g.19750G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.525G>T
ENST00000673918.2:c.6153G>T ENSP00000501283.1:p.Glu2051Asp
ENST00000674114.2:c.3760G>T ENSP00000501039.2:n.3760G>T
ENST00000684977.1:c.1437G>T ENSP00000509384.1:p.Glu479Asp
ENST00000689544.1:n.1372G>T
ENST00000691421.1:c.1440G>T ENSP00000508674.1:p.Glu480Asp
ENST00000691855.1:c.5761G>T
ENST00000692961.1:c.6219G>T ENSP00000509289.1:p.Glu2073Asp
ENST00000693677.1:c.704+439G>T ENSP00000509779.1:n.704+439G>T
ENST00000420124.4:c.6219G>T MANE Select ENSP00000398837.2:p.Glu2073Asp
ENST00000673918.1:c.6153G>T ENSP00000501283.1:p.Glu2051Asp
ENST00000674114.1:c.3541G>T
ENST00000420124.2:c.6219G>T ENSP00000398837.1:p.Glu2073Asp
NM_014727.2:c.6219G>T NP_055542.1:p.Glu2073Asp
XM_011527561.1:c.6153G>T XP_011525863.1:p.Glu2051Asp
XM_011527562.1:c.6219G>T XP_011525864.1:p.Glu2073Asp
XM_011527563.1:c.5943G>T XP_011525865.1:p.Glu1981Asp
XM_011527561.2:c.5655G>T XP_011525863.2:p.Glu1885Asp
XM_011527562.2:c.6219G>T XP_011525864.1:p.Glu2073Asp
XM_017027544.1:c.6219G>T XP_016883033.1:p.Glu2073Asp
XM_017027545.1:c.5655G>T XP_016883034.1:p.Glu1885Asp
XM_017027546.1:c.3183G>T XP_016883035.1:p.Glu1061Asp
NM_014727.3:c.6219G>T MANE Select NP_055542.1:p.Glu2073Asp