Canonical Allele Identifier: CA9384177

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35720443G>A , CM000681.2:g.35720443G>A	GRCh38
NC_000019.9:g.36211345G>A , CM000681.1:g.36211345G>A	GRCh37
NC_000019.8:g.40903185G>A	NCBI36
NG_052906.1:g.7425G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.1096G>A MANE Select	NP_055542.1:p.Glu366Lys
ENST00000420124.4:c.1096G>A MANE Select	ENSP00000398837.2:p.Glu366Lys
NM_014727.2:c.1096G>A	NP_055542.1:p.Glu366Lys
ENST00000420124.2:c.1096G>A	ENSP00000398837.1:p.Glu366Lys
ENST00000673918.1:c.1030G>A	ENSP00000501283.1:p.Glu344Lys
ENST00000673918.2:c.1030G>A	ENSP00000501283.1:p.Glu344Lys
ENST00000687718.1:c.*597G>A	ENSP00000510535.1:n.*597G>A
ENST00000689139.1:c.594G>A
ENST00000691855.1:c.594G>A
ENST00000692961.1:c.1096G>A	ENSP00000509289.1:p.Glu366Lys
XM_011527561.1:c.1030G>A	XP_011525863.1:p.Glu344Lys
XM_011527561.2:c.532G>A	XP_011525863.2:p.Glu178Lys
XM_011527562.1:c.1096G>A	XP_011525864.1:p.Glu366Lys
XM_011527562.2:c.1096G>A	XP_011525864.1:p.Glu366Lys
XM_011527563.1:c.1096G>A	XP_011525865.1:p.Glu366Lys
XM_017027544.1:c.1096G>A	XP_016883033.1:p.Glu366Lys
XM_017027545.1:c.532G>A	XP_016883034.1:p.Glu178Lys
XR_935878.1:n.1120G>A
XR_935878.2:n.1297G>A