Canonical Allele Identifier: CA9385595

Gene: KMT2B

Linked Data

• dbSNP Id: rs561976569
• ExAC: 19:36223506 G / A
• gnomAD v2: 19-36223506-G-A
• gnomAD v3: 19-35732605-G-A
• gnomAD v4: 19-35732605-G-A
• MyVariant Identifiers: chr19:g.36223506G>A (hg19) ; chr19:g.35732605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732605G>A , CM000681.2:g.35732605G>A	GRCh38
NC_000019.9:g.36223506G>A , CM000681.1:g.36223506G>A	GRCh37
NC_000019.8:g.40915346G>A	NCBI36
NG_052906.1:g.19587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.362G>A
ENST00000673918.2:c.5990G>A	ENSP00000501283.1:p.Gly1997Asp
ENST00000674114.2:c.3597G>A	ENSP00000501039.2:n.3597G>A
ENST00000684977.1:c.1274G>A	ENSP00000509384.1:p.Gly425Asp
ENST00000689544.1:n.1209G>A
ENST00000691421.1:c.1277G>A	ENSP00000508674.1:p.Gly426Asp
ENST00000691855.1:c.5598G>A
ENST00000692961.1:c.6056G>A	ENSP00000509289.1:p.Gly2019Asp
ENST00000693677.1:c.704+276G>A	ENSP00000509779.1:n.704+276G>A
ENST00000420124.4:c.6056G>A MANE Select	ENSP00000398837.2:p.Gly2019Asp
ENST00000673918.1:c.5990G>A	ENSP00000501283.1:p.Gly1997Asp
ENST00000674114.1:c.3378G>A
ENST00000420124.2:c.6056G>A	ENSP00000398837.1:p.Gly2019Asp
NM_014727.2:c.6056G>A	NP_055542.1:p.Gly2019Asp
XM_011527561.1:c.5990G>A	XP_011525863.1:p.Gly1997Asp
XM_011527562.1:c.6056G>A	XP_011525864.1:p.Gly2019Asp
XM_011527563.1:c.5780G>A	XP_011525865.1:p.Gly1927Asp
XM_011527561.2:c.5492G>A	XP_011525863.2:p.Gly1831Asp
XM_011527562.2:c.6056G>A	XP_011525864.1:p.Gly2019Asp
XM_017027544.1:c.6056G>A	XP_016883033.1:p.Gly2019Asp
XM_017027545.1:c.5492G>A	XP_016883034.1:p.Gly1831Asp
XM_017027546.1:c.3020G>A	XP_016883035.1:p.Gly1007Asp
NM_014727.3:c.6056G>A MANE Select	NP_055542.1:p.Gly2019Asp