Canonical Allele Identifier: CA405421622

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730765C>T , CM000681.2:g.35730765C>T	GRCh38
NC_000019.9:g.36221666C>T , CM000681.1:g.36221666C>T	GRCh37
NC_000019.8:g.40913506C>T	NCBI36
NG_052906.1:g.17747C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.5335C>T MANE Select	NP_055542.1:p.Arg1779Ter
ENST00000420124.4:c.5335C>T MANE Select	ENSP00000398837.2:p.Arg1779Ter
NM_014727.2:c.5335C>T	NP_055542.1:p.Arg1779Ter
ENST00000420124.2:c.5335C>T	ENSP00000398837.1:p.Arg1779Ter
ENST00000673918.1:c.5269C>T	ENSP00000501283.1:p.Arg1757Ter
ENST00000673918.2:c.5269C>T	ENSP00000501283.1:p.Arg1757Ter
ENST00000674114.1:c.2657C>T
ENST00000674114.2:c.2876C>T	ENSP00000501039.2:n.2876C>T
ENST00000684977.1:c.553C>T	ENSP00000509384.1:p.Arg185Ter
ENST00000685168.1:c.761C>T
ENST00000689544.1:n.488C>T
ENST00000691421.1:c.556C>T	ENSP00000508674.1:p.Arg186Ter
ENST00000691855.1:c.4877C>T
ENST00000692961.1:c.5335C>T	ENSP00000509289.1:p.Arg1779Ter
ENST00000693677.1:c.259C>T	ENSP00000509779.1:p.Arg87Ter
XM_011527561.1:c.5269C>T	XP_011525863.1:p.Arg1757Ter
XM_011527561.2:c.4771C>T	XP_011525863.2:p.Arg1591Ter
XM_011527562.1:c.5335C>T	XP_011525864.1:p.Arg1779Ter
XM_011527562.2:c.5335C>T	XP_011525864.1:p.Arg1779Ter
XM_011527563.1:c.5059C>T	XP_011525865.1:p.Arg1687Ter
XM_017027544.1:c.5335C>T	XP_016883033.1:p.Arg1779Ter
XM_017027545.1:c.4771C>T	XP_016883034.1:p.Arg1591Ter
XM_017027546.1:c.2299C>T	XP_016883035.1:p.Arg767Ter