Canonical Allele Identifier: CA405419474

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730378C>T , CM000681.2:g.35730378C>T	GRCh38
NC_000019.9:g.36221279C>T , CM000681.1:g.36221279C>T	GRCh37
NC_000019.8:g.40913119C>T	NCBI36
NG_052906.1:g.17360C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.5113C>T MANE Select	NP_055542.1:p.Arg1705Ter
ENST00000420124.4:c.5113C>T MANE Select	ENSP00000398837.2:p.Arg1705Ter
NM_014727.2:c.5113C>T	NP_055542.1:p.Arg1705Ter
ENST00000420124.2:c.5113C>T	ENSP00000398837.1:p.Arg1705Ter
ENST00000673918.1:c.5047C>T	ENSP00000501283.1:p.Arg1683Ter
ENST00000673918.2:c.5047C>T	ENSP00000501283.1:p.Arg1683Ter
ENST00000674114.1:c.2435C>T
ENST00000674114.2:c.2654C>T	ENSP00000501039.2:n.2654C>T
ENST00000684977.1:c.331C>T	ENSP00000509384.1:p.Arg111Ter
ENST00000685168.1:c.539C>T
ENST00000689544.1:n.266C>T
ENST00000691421.1:c.334C>T	ENSP00000508674.1:p.Arg112Ter
ENST00000691855.1:c.4655C>T
ENST00000692961.1:c.5113C>T	ENSP00000509289.1:p.Arg1705Ter
ENST00000693677.1:c.37C>T	ENSP00000509779.1:p.Arg13Ter
XM_011527561.1:c.5047C>T	XP_011525863.1:p.Arg1683Ter
XM_011527561.2:c.4549C>T	XP_011525863.2:p.Arg1517Ter
XM_011527562.1:c.5113C>T	XP_011525864.1:p.Arg1705Ter
XM_011527562.2:c.5113C>T	XP_011525864.1:p.Arg1705Ter
XM_011527563.1:c.4837C>T	XP_011525865.1:p.Arg1613Ter
XM_017027544.1:c.5113C>T	XP_016883033.1:p.Arg1705Ter
XM_017027545.1:c.4549C>T	XP_016883034.1:p.Arg1517Ter
XM_017027546.1:c.2077C>T	XP_016883035.1:p.Arg693Ter