Canonical Allele Identifier: CA9385568

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1896810
• ClinVar RCV Id: RCV002576025
• dbSNP Id: rs779678125
• ExAC: 19:36223371 G / A
• gnomAD v2: 19-36223371-G-A
• gnomAD v3: 19-35732470-G-A
• gnomAD v4: 19-35732470-G-A
• MyVariant Identifiers: chr19:g.36223371G>A (hg19) ; chr19:g.35732470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732470G>A , CM000681.2:g.35732470G>A	GRCh38
NC_000019.9:g.36223371G>A , CM000681.1:g.36223371G>A	GRCh37
NC_000019.8:g.40915211G>A	NCBI36
NG_052906.1:g.19452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.227G>A
ENST00000673918.2:c.5855G>A	ENSP00000501283.1:p.Gly1952Asp
ENST00000674114.2:c.3462G>A	ENSP00000501039.2:n.3462G>A
ENST00000684977.1:c.1139G>A	ENSP00000509384.1:p.Gly380Asp
ENST00000689544.1:n.1074G>A
ENST00000691421.1:c.1142G>A	ENSP00000508674.1:p.Gly381Asp
ENST00000691855.1:c.5463G>A
ENST00000692961.1:c.5921G>A	ENSP00000509289.1:p.Gly1974Asp
ENST00000693677.1:c.704+141G>A	ENSP00000509779.1:n.704+141G>A
ENST00000420124.4:c.5921G>A MANE Select	ENSP00000398837.2:p.Gly1974Asp
ENST00000673918.1:c.5855G>A	ENSP00000501283.1:p.Gly1952Asp
ENST00000674114.1:c.3243G>A
ENST00000420124.2:c.5921G>A	ENSP00000398837.1:p.Gly1974Asp
NM_014727.2:c.5921G>A	NP_055542.1:p.Gly1974Asp
XM_011527561.1:c.5855G>A	XP_011525863.1:p.Gly1952Asp
XM_011527562.1:c.5921G>A	XP_011525864.1:p.Gly1974Asp
XM_011527563.1:c.5645G>A	XP_011525865.1:p.Gly1882Asp
XM_011527561.2:c.5357G>A	XP_011525863.2:p.Gly1786Asp
XM_011527562.2:c.5921G>A	XP_011525864.1:p.Gly1974Asp
XM_017027544.1:c.5921G>A	XP_016883033.1:p.Gly1974Asp
XM_017027545.1:c.5357G>A	XP_016883034.1:p.Gly1786Asp
XM_017027546.1:c.2885G>A	XP_016883035.1:p.Gly962Asp
NM_014727.3:c.5921G>A MANE Select	NP_055542.1:p.Gly1974Asp