Canonical Allele Identifier: CA307795264

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732091G>A , CM000681.2:g.35732091G>A	GRCh38
NC_000019.9:g.36222992G>A , CM000681.1:g.36222992G>A	GRCh37
NC_000019.8:g.40914832G>A	NCBI36
NG_052906.1:g.19073G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.5621G>A MANE Select	NP_055542.1:p.Arg1874Gln
ENST00000420124.4:c.5621G>A MANE Select	ENSP00000398837.2:p.Arg1874Gln
NM_014727.2:c.5621G>A	NP_055542.1:p.Arg1874Gln
ENST00000420124.2:c.5621G>A	ENSP00000398837.1:p.Arg1874Gln
ENST00000673918.1:c.5555G>A	ENSP00000501283.1:p.Arg1852Gln
ENST00000673918.2:c.5555G>A	ENSP00000501283.1:p.Arg1852Gln
ENST00000674114.1:c.2943G>A
ENST00000674114.2:c.3162G>A	ENSP00000501039.2:n.3162G>A
ENST00000684977.1:c.839G>A	ENSP00000509384.1:p.Arg280Gln
ENST00000685168.1:c.1047G>A
ENST00000689544.1:n.774G>A
ENST00000691421.1:c.842G>A	ENSP00000508674.1:p.Arg281Gln
ENST00000691855.1:c.5163G>A
ENST00000692961.1:c.5621G>A	ENSP00000509289.1:p.Arg1874Gln
ENST00000693677.1:c.545G>A	ENSP00000509779.1:p.Arg182Gln
XM_011527561.1:c.5555G>A	XP_011525863.1:p.Arg1852Gln
XM_011527561.2:c.5057G>A	XP_011525863.2:p.Arg1686Gln
XM_011527562.1:c.5621G>A	XP_011525864.1:p.Arg1874Gln
XM_011527562.2:c.5621G>A	XP_011525864.1:p.Arg1874Gln
XM_011527563.1:c.5345G>A	XP_011525865.1:p.Arg1782Gln
XM_017027544.1:c.5621G>A	XP_016883033.1:p.Arg1874Gln
XM_017027545.1:c.5057G>A	XP_016883034.1:p.Arg1686Gln
XM_017027546.1:c.2585G>A	XP_016883035.1:p.Arg862Gln