Canonical Allele Identifier: CA405425971

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732719G>A , CM000681.2:g.35732719G>A	GRCh38
NC_000019.9:g.36223620G>A , CM000681.1:g.36223620G>A	GRCh37
NC_000019.8:g.40915460G>A	NCBI36
NG_052906.1:g.19701G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.6170G>A MANE Select	NP_055542.1:p.Arg2057His
ENST00000420124.4:c.6170G>A MANE Select	ENSP00000398837.2:p.Arg2057His
NM_014727.2:c.6170G>A	NP_055542.1:p.Arg2057His
ENST00000420124.2:c.6170G>A	ENSP00000398837.1:p.Arg2057His
ENST00000592092.2:n.476G>A
ENST00000673918.1:c.6104G>A	ENSP00000501283.1:p.Arg2035His
ENST00000673918.2:c.6104G>A	ENSP00000501283.1:p.Arg2035His
ENST00000674114.1:c.3492G>A
ENST00000674114.2:c.3711G>A	ENSP00000501039.2:n.3711G>A
ENST00000684977.1:c.1388G>A	ENSP00000509384.1:p.Arg463His
ENST00000689544.1:n.1323G>A
ENST00000691421.1:c.1391G>A	ENSP00000508674.1:p.Arg464His
ENST00000691855.1:c.5712G>A
ENST00000692961.1:c.6170G>A	ENSP00000509289.1:p.Arg2057His
ENST00000693677.1:c.704+390G>A	ENSP00000509779.1:n.704+390G>A
XM_011527561.1:c.6104G>A	XP_011525863.1:p.Arg2035His
XM_011527561.2:c.5606G>A	XP_011525863.2:p.Arg1869His
XM_011527562.1:c.6170G>A	XP_011525864.1:p.Arg2057His
XM_011527562.2:c.6170G>A	XP_011525864.1:p.Arg2057His
XM_011527563.1:c.5894G>A	XP_011525865.1:p.Arg1965His
XM_017027544.1:c.6170G>A	XP_016883033.1:p.Arg2057His
XM_017027545.1:c.5606G>A	XP_016883034.1:p.Arg1869His
XM_017027546.1:c.3134G>A	XP_016883035.1:p.Arg1045His