Canonical Allele Identifier: CA2333794678
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733140G= , CM000681.2:g.35733140G= GRCh38
NC_000019.9:g.36224041G= , CM000681.1:g.36224041G= GRCh37
NC_000019.8:g.40915881G= NCBI36
NG_052906.1:g.20122G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.897G=
ENST00000673918.2:c.6525G= ENSP00000501283.1:p.Leu2175=
ENST00000674114.2:c.4132G= ENSP00000501039.2:n.4132G=
ENST00000684977.1:c.1809G= ENSP00000509384.1:p.Leu603=
ENST00000689544.1:n.1744G=
ENST00000691421.1:c.1812G= ENSP00000508674.1:p.Leu604=
ENST00000691855.1:c.6133G=
ENST00000692961.1:c.6591G= ENSP00000509289.1:p.Leu2197=
ENST00000693677.1:c.705-457G= ENSP00000509779.1:n.705-457G=
ENST00000420124.4:c.6591G= MANE Select ENSP00000398837.2:p.Leu2197=
ENST00000673918.1:c.6525G= ENSP00000501283.1:p.Leu2175=
ENST00000674114.1:c.3913G=
ENST00000420124.2:c.6591G= ENSP00000398837.1:p.Leu2197=
NM_014727.2:c.6591G= NP_055542.1:p.Leu2197=
XM_011527561.1:c.6525G= XP_011525863.1:p.Leu2175=
XM_011527562.1:c.6591G= XP_011525864.1:p.Leu2197=
XM_011527563.1:c.6315G= XP_011525865.1:p.Leu2105=
XM_011527561.2:c.6027G= XP_011525863.2:p.Leu2009=
XM_011527562.2:c.6591G= XP_011525864.1:p.Leu2197=
XM_017027544.1:c.6591G= XP_016883033.1:p.Leu2197=
XM_017027545.1:c.6027G= XP_016883034.1:p.Leu2009=
XM_017027546.1:c.3555G= XP_016883035.1:p.Leu1185=
NM_014727.3:c.6591G= MANE Select NP_055542.1:p.Leu2197=