Canonical Allele Identifier: CA405428063
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732913G>C , CM000681.2:g.35732913G>C GRCh38
NC_000019.9:g.36223814G>C , CM000681.1:g.36223814G>C GRCh37
NC_000019.8:g.40915654G>C NCBI36
NG_052906.1:g.19895G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.670G>C
ENST00000673918.2:c.6298G>C ENSP00000501283.1:p.Gly2100Arg
ENST00000674114.2:c.3905G>C ENSP00000501039.2:n.3905G>C
ENST00000684977.1:c.1582G>C ENSP00000509384.1:p.Gly528Arg
ENST00000689544.1:n.1517G>C
ENST00000691421.1:c.1585G>C ENSP00000508674.1:p.Gly529Arg
ENST00000691855.1:c.5906G>C
ENST00000692961.1:c.6364G>C ENSP00000509289.1:p.Gly2122Arg
ENST00000693677.1:c.704+584G>C ENSP00000509779.1:n.704+584G>C
ENST00000420124.4:c.6364G>C MANE Select ENSP00000398837.2:p.Gly2122Arg
ENST00000673918.1:c.6298G>C ENSP00000501283.1:p.Gly2100Arg
ENST00000674114.1:c.3686G>C
ENST00000420124.2:c.6364G>C ENSP00000398837.1:p.Gly2122Arg
NM_014727.2:c.6364G>C NP_055542.1:p.Gly2122Arg
XM_011527561.1:c.6298G>C XP_011525863.1:p.Gly2100Arg
XM_011527562.1:c.6364G>C XP_011525864.1:p.Gly2122Arg
XM_011527563.1:c.6088G>C XP_011525865.1:p.Gly2030Arg
XM_011527561.2:c.5800G>C XP_011525863.2:p.Gly1934Arg
XM_011527562.2:c.6364G>C XP_011525864.1:p.Gly2122Arg
XM_017027544.1:c.6364G>C XP_016883033.1:p.Gly2122Arg
XM_017027545.1:c.5800G>C XP_016883034.1:p.Gly1934Arg
XM_017027546.1:c.3328G>C XP_016883035.1:p.Gly1110Arg
NM_014727.3:c.6364G>C MANE Select NP_055542.1:p.Gly2122Arg