Canonical Allele Identifier: CA405428135

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2010317
• ClinVar RCV Id: RCV002833900
• MyVariant Identifiers: chr19:g.36223828T>A (hg19) ; chr19:g.35732927T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732927T>A , CM000681.2:g.35732927T>A	GRCh38
NC_000019.9:g.36223828T>A , CM000681.1:g.36223828T>A	GRCh37
NC_000019.8:g.40915668T>A	NCBI36
NG_052906.1:g.19909T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.684T>A
ENST00000673918.2:c.6312T>A	ENSP00000501283.1:p.Asp2104Glu
ENST00000674114.2:c.3919T>A	ENSP00000501039.2:n.3919T>A
ENST00000684977.1:c.1596T>A	ENSP00000509384.1:p.Asp532Glu
ENST00000689544.1:n.1531T>A
ENST00000691421.1:c.1599T>A	ENSP00000508674.1:p.Asp533Glu
ENST00000691855.1:c.5920T>A
ENST00000692961.1:c.6378T>A	ENSP00000509289.1:p.Asp2126Glu
ENST00000693677.1:c.704+598T>A	ENSP00000509779.1:n.704+598T>A
ENST00000420124.4:c.6378T>A MANE Select	ENSP00000398837.2:p.Asp2126Glu
ENST00000673918.1:c.6312T>A	ENSP00000501283.1:p.Asp2104Glu
ENST00000674114.1:c.3700T>A
ENST00000420124.2:c.6378T>A	ENSP00000398837.1:p.Asp2126Glu
NM_014727.2:c.6378T>A	NP_055542.1:p.Asp2126Glu
XM_011527561.1:c.6312T>A	XP_011525863.1:p.Asp2104Glu
XM_011527562.1:c.6378T>A	XP_011525864.1:p.Asp2126Glu
XM_011527563.1:c.6102T>A	XP_011525865.1:p.Asp2034Glu
XM_011527561.2:c.5814T>A	XP_011525863.2:p.Asp1938Glu
XM_011527562.2:c.6378T>A	XP_011525864.1:p.Asp2126Glu
XM_017027544.1:c.6378T>A	XP_016883033.1:p.Asp2126Glu
XM_017027545.1:c.5814T>A	XP_016883034.1:p.Asp1938Glu
XM_017027546.1:c.3342T>A	XP_016883035.1:p.Asp1114Glu
NM_014727.3:c.6378T>A MANE Select	NP_055542.1:p.Asp2126Glu