Canonical Allele Identifier: CA9384214

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35720684C>T , CM000681.2:g.35720684C>T	GRCh38
NC_000019.9:g.36211586C>T , CM000681.1:g.36211586C>T	GRCh37
NC_000019.8:g.40903426C>T	NCBI36
NG_052906.1:g.7666C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.1337C>T MANE Select	NP_055542.1:p.Pro446Leu
ENST00000420124.4:c.1337C>T MANE Select	ENSP00000398837.2:p.Pro446Leu
NM_014727.2:c.1337C>T	NP_055542.1:p.Pro446Leu
ENST00000420124.2:c.1337C>T	ENSP00000398837.1:p.Pro446Leu
ENST00000673918.1:c.1271C>T	ENSP00000501283.1:p.Pro424Leu
ENST00000673918.2:c.1271C>T	ENSP00000501283.1:p.Pro424Leu
ENST00000687718.1:c.*838C>T	ENSP00000510535.1:n.*838C>T
ENST00000689139.1:c.835C>T
ENST00000691855.1:c.835C>T
ENST00000692961.1:c.1337C>T	ENSP00000509289.1:p.Pro446Leu
XM_011527561.1:c.1271C>T	XP_011525863.1:p.Pro424Leu
XM_011527561.2:c.773C>T	XP_011525863.2:p.Pro258Leu
XM_011527562.1:c.1337C>T	XP_011525864.1:p.Pro446Leu
XM_011527562.2:c.1337C>T	XP_011525864.1:p.Pro446Leu
XM_011527563.1:c.1337C>T	XP_011525865.1:p.Pro446Leu
XM_017027544.1:c.1337C>T	XP_016883033.1:p.Pro446Leu
XM_017027545.1:c.773C>T	XP_016883034.1:p.Pro258Leu
XR_935878.1:n.1361C>T
XR_935878.2:n.1538C>T