Canonical Allele Identifier: CA405425580

Gene: KMT2B

Linked Data

• dbSNP Id: rs1404813734
• gnomAD v2: 19-36223529-G-A
• gnomAD v3: 19-35732628-G-A
• gnomAD v4: 19-35732628-G-A
• MyVariant Identifiers: chr19:g.36223529G>A (hg19) ; chr19:g.35732628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732628G>A , CM000681.2:g.35732628G>A	GRCh38
NC_000019.9:g.36223529G>A , CM000681.1:g.36223529G>A	GRCh37
NC_000019.8:g.40915369G>A	NCBI36
NG_052906.1:g.19610G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.385G>A
ENST00000673918.2:c.6013G>A	ENSP00000501283.1:p.Glu2005Lys
ENST00000674114.2:c.3620G>A	ENSP00000501039.2:n.3620G>A
ENST00000684977.1:c.1297G>A	ENSP00000509384.1:p.Glu433Lys
ENST00000689544.1:n.1232G>A
ENST00000691421.1:c.1300G>A	ENSP00000508674.1:p.Glu434Lys
ENST00000691855.1:c.5621G>A
ENST00000692961.1:c.6079G>A	ENSP00000509289.1:p.Glu2027Lys
ENST00000693677.1:c.704+299G>A	ENSP00000509779.1:n.704+299G>A
ENST00000420124.4:c.6079G>A MANE Select	ENSP00000398837.2:p.Glu2027Lys
ENST00000673918.1:c.6013G>A	ENSP00000501283.1:p.Glu2005Lys
ENST00000674114.1:c.3401G>A
ENST00000420124.2:c.6079G>A	ENSP00000398837.1:p.Glu2027Lys
NM_014727.2:c.6079G>A	NP_055542.1:p.Glu2027Lys
XM_011527561.1:c.6013G>A	XP_011525863.1:p.Glu2005Lys
XM_011527562.1:c.6079G>A	XP_011525864.1:p.Glu2027Lys
XM_011527563.1:c.5803G>A	XP_011525865.1:p.Glu1935Lys
XM_011527561.2:c.5515G>A	XP_011525863.2:p.Glu1839Lys
XM_011527562.2:c.6079G>A	XP_011525864.1:p.Glu2027Lys
XM_017027544.1:c.6079G>A	XP_016883033.1:p.Glu2027Lys
XM_017027545.1:c.5515G>A	XP_016883034.1:p.Glu1839Lys
XM_017027546.1:c.3043G>A	XP_016883035.1:p.Glu1015Lys
NM_014727.3:c.6079G>A MANE Select	NP_055542.1:p.Glu2027Lys