Canonical Allele Identifier: CA405440414

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35738393C>T , CM000681.2:g.35738393C>T	GRCh38
NC_000019.9:g.36229294C>T , CM000681.1:g.36229294C>T	GRCh37
NC_000019.8:g.40921134C>T	NCBI36
NG_052906.1:g.25375C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.7984C>T MANE Select	NP_055542.1:p.Arg2662Trp
ENST00000420124.4:c.7984C>T MANE Select	ENSP00000398837.2:p.Arg2662Trp
NM_014727.2:c.7984C>T	NP_055542.1:p.Arg2662Trp
ENST00000420124.2:c.7984C>T	ENSP00000398837.1:p.Arg2662Trp
ENST00000585476.5:n.2379C>T
ENST00000586308.1:n.602C>T
ENST00000592092.2:n.2454C>T
ENST00000673918.1:c.7918C>T	ENSP00000501283.1:p.Arg2640Trp
ENST00000673918.2:c.7918C>T	ENSP00000501283.1:p.Arg2640Trp
ENST00000674101.1:c.872C>T
ENST00000674114.1:c.5306C>T
ENST00000674114.2:c.5525C>T	ENSP00000501039.2:n.5525C>T
ENST00000686920.1:c.333C>T
ENST00000689544.1:n.3225C>T
ENST00000691855.1:c.7526C>T
ENST00000692961.1:c.*669C>T	ENSP00000509289.1:n.*669C>T
ENST00000693161.1:c.647C>T
ENST00000693175.1:c.1033C>T
ENST00000693677.1:c.1729C>T	ENSP00000509779.1:p.Arg577Trp
XM_011527561.1:c.7918C>T	XP_011525863.1:p.Arg2640Trp
XM_011527561.2:c.7420C>T	XP_011525863.2:p.Arg2474Trp
XM_011527562.1:c.*144C>T	XP_011525864.1:n.*144C>T
XM_011527562.2:c.*144C>T	XP_011525864.1:n.*144C>T
XM_011527563.1:c.7708C>T	XP_011525865.1:p.Arg2570Trp
XM_017027544.1:c.7894C>T	XP_016883033.1:p.Arg2632Trp
XM_017027545.1:c.7420C>T	XP_016883034.1:p.Arg2474Trp
XM_017027546.1:c.4948C>T	XP_016883035.1:p.Arg1650Trp