Canonical Allele Identifier: CA9385099

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35727948G>A , CM000681.2:g.35727948G>A	GRCh38
NC_000019.9:g.36218849G>A , CM000681.1:g.36218849G>A	GRCh37
NC_000019.8:g.40910689G>A	NCBI36
NG_052906.1:g.14930G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.4460G>A MANE Select	NP_055542.1:p.Arg1487His
ENST00000420124.4:c.4460G>A MANE Select	ENSP00000398837.2:p.Arg1487His
NM_014727.2:c.4460G>A	NP_055542.1:p.Arg1487His
ENST00000420124.2:c.4460G>A	ENSP00000398837.1:p.Arg1487His
ENST00000673918.1:c.4394G>A	ENSP00000501283.1:p.Arg1465His
ENST00000673918.2:c.4394G>A	ENSP00000501283.1:p.Arg1465His
ENST00000674114.1:c.1782G>A
ENST00000674114.2:c.2001G>A	ENSP00000501039.2:n.2001G>A
ENST00000690290.1:c.427G>A
ENST00000691855.1:c.4002G>A
ENST00000691968.1:c.1008G>A	ENSP00000508504.1:n.1008G>A
ENST00000692961.1:c.4460G>A	ENSP00000509289.1:p.Arg1487His
XM_011527561.1:c.4394G>A	XP_011525863.1:p.Arg1465His
XM_011527561.2:c.3896G>A	XP_011525863.2:p.Arg1299His
XM_011527562.1:c.4460G>A	XP_011525864.1:p.Arg1487His
XM_011527562.2:c.4460G>A	XP_011525864.1:p.Arg1487His
XM_011527563.1:c.4184G>A	XP_011525865.1:p.Arg1395His
XM_017027544.1:c.4460G>A	XP_016883033.1:p.Arg1487His
XM_017027545.1:c.3896G>A	XP_016883034.1:p.Arg1299His
XM_017027546.1:c.1424G>A	XP_016883035.1:p.Arg475His
XR_935878.1:n.4484G>A
XR_935878.2:n.4661G>A