Canonical Allele Identifier: CA507308788

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732948-G-A
• MyVariant Identifiers: chr19:g.36223849G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732948G>A , CM000681.2:g.35732948G>A	GRCh38
NC_000019.9:g.36223849G>A , CM000681.1:g.36223849G>A	GRCh37
NC_000019.8:g.40915689G>A	NCBI36
NG_052906.1:g.19930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.705G>A
ENST00000673918.2:c.6333G>A	ENSP00000501283.1:p.Glu2111=
ENST00000674114.2:c.3940G>A	ENSP00000501039.2:n.3940G>A
ENST00000684977.1:c.1617G>A	ENSP00000509384.1:p.Glu539=
ENST00000689544.1:n.1552G>A
ENST00000691421.1:c.1620G>A	ENSP00000508674.1:p.Glu540=
ENST00000691855.1:c.5941G>A
ENST00000692961.1:c.6399G>A	ENSP00000509289.1:p.Glu2133=
ENST00000693677.1:c.704+619G>A	ENSP00000509779.1:n.704+619G>A
ENST00000420124.4:c.6399G>A MANE Select	ENSP00000398837.2:p.Glu2133=
ENST00000673918.1:c.6333G>A	ENSP00000501283.1:p.Glu2111=
ENST00000674114.1:c.3721G>A
ENST00000420124.2:c.6399G>A	ENSP00000398837.1:p.Glu2133=
NM_014727.2:c.6399G>A	NP_055542.1:p.Glu2133=
XM_011527561.1:c.6333G>A	XP_011525863.1:p.Glu2111=
XM_011527562.1:c.6399G>A	XP_011525864.1:p.Glu2133=
XM_011527563.1:c.6123G>A	XP_011525865.1:p.Glu2041=
XM_011527561.2:c.5835G>A	XP_011525863.2:p.Glu1945=
XM_011527562.2:c.6399G>A	XP_011525864.1:p.Glu2133=
XM_017027544.1:c.6399G>A	XP_016883033.1:p.Glu2133=
XM_017027545.1:c.5835G>A	XP_016883034.1:p.Glu1945=
XM_017027546.1:c.3363G>A	XP_016883035.1:p.Glu1121=
NM_014727.3:c.6399G>A MANE Select	NP_055542.1:p.Glu2133=