Canonical Allele Identifier: CA9384460

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35722363G>T , CM000681.2:g.35722363G>T	GRCh38
NC_000019.9:g.36213265G>T , CM000681.1:g.36213265G>T	GRCh37
NC_000019.8:g.40905105G>T	NCBI36
NG_052906.1:g.9345G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.2462G>T MANE Select	NP_055542.1:p.Ser821Ile
ENST00000420124.4:c.2462G>T MANE Select	ENSP00000398837.2:p.Ser821Ile
NM_014727.2:c.2462G>T	NP_055542.1:p.Ser821Ile
ENST00000420124.2:c.2462G>T	ENSP00000398837.1:p.Ser821Ile
ENST00000673918.1:c.2396G>T	ENSP00000501283.1:p.Ser799Ile
ENST00000673918.2:c.2396G>T	ENSP00000501283.1:p.Ser799Ile
ENST00000674114.2:c.5G>T	ENSP00000501039.2:p.Ser2Ile
ENST00000687718.1:c.*1963G>T	ENSP00000510535.1:n.*1963G>T
ENST00000689139.1:c.1987G>T
ENST00000691855.1:c.1960G>T
ENST00000692961.1:c.2462G>T	ENSP00000509289.1:p.Ser821Ile
XM_011527561.1:c.2396G>T	XP_011525863.1:p.Ser799Ile
XM_011527561.2:c.1898G>T	XP_011525863.2:p.Ser633Ile
XM_011527562.1:c.2462G>T	XP_011525864.1:p.Ser821Ile
XM_011527562.2:c.2462G>T	XP_011525864.1:p.Ser821Ile
XM_011527563.1:c.2462G>T	XP_011525865.1:p.Ser821Ile
XM_017027544.1:c.2462G>T	XP_016883033.1:p.Ser821Ile
XM_017027545.1:c.1898G>T	XP_016883034.1:p.Ser633Ile
XR_935878.1:n.2486G>T
XR_935878.2:n.2663G>T