Canonical Allele Identifier: CA9384163

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35720375G>A , CM000681.2:g.35720375G>A	GRCh38
NC_000019.9:g.36211277G>A , CM000681.1:g.36211277G>A	GRCh37
NC_000019.8:g.40903117G>A	NCBI36
NG_052906.1:g.7357G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.1028G>A MANE Select	NP_055542.1:p.Arg343Lys
ENST00000420124.4:c.1028G>A MANE Select	ENSP00000398837.2:p.Arg343Lys
NM_014727.2:c.1028G>A	NP_055542.1:p.Arg343Lys
ENST00000420124.2:c.1028G>A	ENSP00000398837.1:p.Arg343Lys
ENST00000673918.1:c.962G>A	ENSP00000501283.1:p.Arg321Lys
ENST00000673918.2:c.962G>A	ENSP00000501283.1:p.Arg321Lys
ENST00000687718.1:c.*529G>A	ENSP00000510535.1:n.*529G>A
ENST00000689139.1:c.526G>A
ENST00000691855.1:c.526G>A
ENST00000692961.1:c.1028G>A	ENSP00000509289.1:p.Arg343Lys
XM_011527561.1:c.962G>A	XP_011525863.1:p.Arg321Lys
XM_011527561.2:c.464G>A	XP_011525863.2:p.Arg155Lys
XM_011527562.1:c.1028G>A	XP_011525864.1:p.Arg343Lys
XM_011527562.2:c.1028G>A	XP_011525864.1:p.Arg343Lys
XM_011527563.1:c.1028G>A	XP_011525865.1:p.Arg343Lys
XM_017027544.1:c.1028G>A	XP_016883033.1:p.Arg343Lys
XM_017027545.1:c.464G>A	XP_016883034.1:p.Arg155Lys
XR_935878.1:n.1052G>A
XR_935878.2:n.1229G>A