Canonical Allele Identifier: CA405419482

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730379G>A , CM000681.2:g.35730379G>A	GRCh38
NC_000019.9:g.36221280G>A , CM000681.1:g.36221280G>A	GRCh37
NC_000019.8:g.40913120G>A	NCBI36
NG_052906.1:g.17361G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.5114G>A MANE Select	NP_055542.1:p.Arg1705Gln
ENST00000420124.4:c.5114G>A MANE Select	ENSP00000398837.2:p.Arg1705Gln
NM_014727.2:c.5114G>A	NP_055542.1:p.Arg1705Gln
ENST00000420124.2:c.5114G>A	ENSP00000398837.1:p.Arg1705Gln
ENST00000673918.1:c.5048G>A	ENSP00000501283.1:p.Arg1683Gln
ENST00000673918.2:c.5048G>A	ENSP00000501283.1:p.Arg1683Gln
ENST00000674114.1:c.2436G>A
ENST00000674114.2:c.2655G>A	ENSP00000501039.2:n.2655G>A
ENST00000684977.1:c.332G>A	ENSP00000509384.1:p.Arg111Gln
ENST00000685168.1:c.540G>A
ENST00000689544.1:n.267G>A
ENST00000691421.1:c.335G>A	ENSP00000508674.1:p.Arg112Gln
ENST00000691855.1:c.4656G>A
ENST00000692961.1:c.5114G>A	ENSP00000509289.1:p.Arg1705Gln
ENST00000693677.1:c.38G>A	ENSP00000509779.1:p.Arg13Gln
XM_011527561.1:c.5048G>A	XP_011525863.1:p.Arg1683Gln
XM_011527561.2:c.4550G>A	XP_011525863.2:p.Arg1517Gln
XM_011527562.1:c.5114G>A	XP_011525864.1:p.Arg1705Gln
XM_011527562.2:c.5114G>A	XP_011525864.1:p.Arg1705Gln
XM_011527563.1:c.4838G>A	XP_011525865.1:p.Arg1613Gln
XM_017027544.1:c.5114G>A	XP_016883033.1:p.Arg1705Gln
XM_017027545.1:c.4550G>A	XP_016883034.1:p.Arg1517Gln
XM_017027546.1:c.2078G>A	XP_016883035.1:p.Arg693Gln