Canonical Allele Identifier: CA405422071

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35731932C>G , CM000681.2:g.35731932C>G	GRCh38
NC_000019.9:g.36222833C>G , CM000681.1:g.36222833C>G	GRCh37
NC_000019.8:g.40914673C>G	NCBI36
NG_052906.1:g.18914C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.5462C>G MANE Select	NP_055542.1:p.Pro1821Arg
ENST00000420124.4:c.5462C>G MANE Select	ENSP00000398837.2:p.Pro1821Arg
NM_014727.2:c.5462C>G	NP_055542.1:p.Pro1821Arg
ENST00000420124.2:c.5462C>G	ENSP00000398837.1:p.Pro1821Arg
ENST00000673918.1:c.5396C>G	ENSP00000501283.1:p.Pro1799Arg
ENST00000673918.2:c.5396C>G	ENSP00000501283.1:p.Pro1799Arg
ENST00000674114.1:c.2784C>G
ENST00000674114.2:c.3003C>G	ENSP00000501039.2:n.3003C>G
ENST00000684977.1:c.680C>G	ENSP00000509384.1:p.Pro227Arg
ENST00000685168.1:c.888C>G
ENST00000689544.1:n.615C>G
ENST00000691421.1:c.683C>G	ENSP00000508674.1:p.Pro228Arg
ENST00000691855.1:c.5004C>G
ENST00000692961.1:c.5462C>G	ENSP00000509289.1:p.Pro1821Arg
ENST00000693677.1:c.386C>G	ENSP00000509779.1:p.Pro129Arg
XM_011527561.1:c.5396C>G	XP_011525863.1:p.Pro1799Arg
XM_011527561.2:c.4898C>G	XP_011525863.2:p.Pro1633Arg
XM_011527562.1:c.5462C>G	XP_011525864.1:p.Pro1821Arg
XM_011527562.2:c.5462C>G	XP_011525864.1:p.Pro1821Arg
XM_011527563.1:c.5186C>G	XP_011525865.1:p.Pro1729Arg
XM_017027544.1:c.5462C>G	XP_016883033.1:p.Pro1821Arg
XM_017027545.1:c.4898C>G	XP_016883034.1:p.Pro1633Arg
XM_017027546.1:c.2426C>G	XP_016883035.1:p.Pro809Arg