Canonical Allele Identifier: CA405410076

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35725536G>A , CM000681.2:g.35725536G>A	GRCh38
NC_000019.9:g.36216437G>A , CM000681.1:g.36216437G>A	GRCh37
NC_000019.8:g.40908277G>A	NCBI36
NG_052906.1:g.12518G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.3700G>A MANE Select	NP_055542.1:p.Glu1234Lys
ENST00000420124.4:c.3700G>A MANE Select	ENSP00000398837.2:p.Glu1234Lys
NM_014727.2:c.3700G>A	NP_055542.1:p.Glu1234Lys
ENST00000420124.2:c.3700G>A	ENSP00000398837.1:p.Glu1234Lys
ENST00000673918.1:c.3634G>A	ENSP00000501283.1:p.Glu1212Lys
ENST00000673918.2:c.3634G>A	ENSP00000501283.1:p.Glu1212Lys
ENST00000674114.1:c.1022G>A
ENST00000674114.2:c.1241G>A	ENSP00000501039.2:n.1241G>A
ENST00000685609.1:c.271G>A	ENSP00000509152.1:p.Glu91Lys
ENST00000691855.1:c.3242G>A
ENST00000691968.1:c.271G>A	ENSP00000508504.1:p.Glu91Lys
ENST00000692961.1:c.3700G>A	ENSP00000509289.1:p.Glu1234Lys
ENST00000693540.1:c.271G>A	ENSP00000509503.1:p.Glu91Lys
XM_011527561.1:c.3634G>A	XP_011525863.1:p.Glu1212Lys
XM_011527561.2:c.3136G>A	XP_011525863.2:p.Glu1046Lys
XM_011527562.1:c.3700G>A	XP_011525864.1:p.Glu1234Lys
XM_011527562.2:c.3700G>A	XP_011525864.1:p.Glu1234Lys
XM_011527563.1:c.3424G>A	XP_011525865.1:p.Glu1142Lys
XM_017027544.1:c.3700G>A	XP_016883033.1:p.Glu1234Lys
XM_017027545.1:c.3136G>A	XP_016883034.1:p.Glu1046Lys
XM_017027546.1:c.664G>A	XP_016883035.1:p.Glu222Lys
XR_935878.1:n.3724G>A
XR_935878.2:n.3901G>A