Canonical Allele Identifier: CA405414720

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35728149C>T , CM000681.2:g.35728149C>T	GRCh38
NC_000019.9:g.36219050C>T , CM000681.1:g.36219050C>T	GRCh37
NC_000019.8:g.40910890C>T	NCBI36
NG_052906.1:g.15131C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.4549C>T MANE Select	NP_055542.1:p.Arg1517Ter
ENST00000420124.4:c.4549C>T MANE Select	ENSP00000398837.2:p.Arg1517Ter
NM_014727.2:c.4549C>T	NP_055542.1:p.Arg1517Ter
ENST00000420124.2:c.4549C>T	ENSP00000398837.1:p.Arg1517Ter
ENST00000673918.1:c.4483C>T	ENSP00000501283.1:p.Arg1495Ter
ENST00000673918.2:c.4483C>T	ENSP00000501283.1:p.Arg1495Ter
ENST00000673946.1:c.52C>T	ENSP00000501076.1:p.Arg18Ter
ENST00000674114.1:c.1871C>T
ENST00000674114.2:c.2090C>T	ENSP00000501039.2:n.2090C>T
ENST00000690290.1:c.516C>T
ENST00000691855.1:c.4091C>T
ENST00000691968.1:c.1097C>T	ENSP00000508504.1:n.1097C>T
ENST00000692961.1:c.4549C>T	ENSP00000509289.1:p.Arg1517Ter
XM_011527561.1:c.4483C>T	XP_011525863.1:p.Arg1495Ter
XM_011527561.2:c.3985C>T	XP_011525863.2:p.Arg1329Ter
XM_011527562.1:c.4549C>T	XP_011525864.1:p.Arg1517Ter
XM_011527562.2:c.4549C>T	XP_011525864.1:p.Arg1517Ter
XM_011527563.1:c.4273C>T	XP_011525865.1:p.Arg1425Ter
XM_017027544.1:c.4549C>T	XP_016883033.1:p.Arg1517Ter
XM_017027545.1:c.3985C>T	XP_016883034.1:p.Arg1329Ter
XM_017027546.1:c.1513C>T	XP_016883035.1:p.Arg505Ter
XR_935878.1:n.4573C>T
XR_935878.2:n.4750C>T