Canonical Allele Identifier: CA405425581

Gene: KMT2B

Linked Data

• dbSNP Id: rs1404813734
• gnomAD v2: 19-36223529-G-T
• gnomAD v4: 19-35732628-G-T
• COSMIC: COSM3892330
• MyVariant Identifiers: chr19:g.36223529G>T (hg19) ; chr19:g.35732628G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.385G>T
ENST00000673918.2:c.6013G>T	ENSP00000501283.1:p.Glu2005Ter
ENST00000674114.2:c.3620G>T	ENSP00000501039.2:n.3620G>T
ENST00000684977.1:c.1297G>T	ENSP00000509384.1:p.Glu433Ter
ENST00000689544.1:n.1232G>T
ENST00000691421.1:c.1300G>T	ENSP00000508674.1:p.Glu434Ter
ENST00000691855.1:c.5621G>T
ENST00000692961.1:c.6079G>T	ENSP00000509289.1:p.Glu2027Ter
ENST00000693677.1:c.704+299G>T	ENSP00000509779.1:n.704+299G>T
ENST00000420124.4:c.6079G>T MANE Select	ENSP00000398837.2:p.Glu2027Ter
ENST00000673918.1:c.6013G>T	ENSP00000501283.1:p.Glu2005Ter
ENST00000674114.1:c.3401G>T
ENST00000420124.2:c.6079G>T	ENSP00000398837.1:p.Glu2027Ter
NM_014727.2:c.6079G>T	NP_055542.1:p.Glu2027Ter
XM_011527561.1:c.6013G>T	XP_011525863.1:p.Glu2005Ter
XM_011527562.1:c.6079G>T	XP_011525864.1:p.Glu2027Ter
XM_011527563.1:c.5803G>T	XP_011525865.1:p.Glu1935Ter
XM_011527561.2:c.5515G>T	XP_011525863.2:p.Glu1839Ter
XM_011527562.2:c.6079G>T	XP_011525864.1:p.Glu2027Ter
XM_017027544.1:c.6079G>T	XP_016883033.1:p.Glu2027Ter
XM_017027545.1:c.5515G>T	XP_016883034.1:p.Glu1839Ter
XM_017027546.1:c.3043G>T	XP_016883035.1:p.Glu1015Ter
NM_014727.3:c.6079G>T MANE Select	NP_055542.1:p.Glu2027Ter