Canonical Allele Identifier: CA405428262

Gene: KMT2B

Linked Data

• dbSNP Id: rs1599695413
• MyVariant Identifiers: chr19:g.36223848A>G (hg19) ; chr19:g.35732947A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732947A>G , CM000681.2:g.35732947A>G	GRCh38
NC_000019.9:g.36223848A>G , CM000681.1:g.36223848A>G	GRCh37
NC_000019.8:g.40915688A>G	NCBI36
NG_052906.1:g.19929A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.704A>G
ENST00000673918.2:c.6332A>G	ENSP00000501283.1:p.Glu2111Gly
ENST00000674114.2:c.3939A>G	ENSP00000501039.2:n.3939A>G
ENST00000684977.1:c.1616A>G	ENSP00000509384.1:p.Glu539Gly
ENST00000689544.1:n.1551A>G
ENST00000691421.1:c.1619A>G	ENSP00000508674.1:p.Glu540Gly
ENST00000691855.1:c.5940A>G
ENST00000692961.1:c.6398A>G	ENSP00000509289.1:p.Glu2133Gly
ENST00000693677.1:c.704+618A>G	ENSP00000509779.1:n.704+618A>G
ENST00000420124.4:c.6398A>G MANE Select	ENSP00000398837.2:p.Glu2133Gly
ENST00000673918.1:c.6332A>G	ENSP00000501283.1:p.Glu2111Gly
ENST00000674114.1:c.3720A>G
ENST00000420124.2:c.6398A>G	ENSP00000398837.1:p.Glu2133Gly
NM_014727.2:c.6398A>G	NP_055542.1:p.Glu2133Gly
XM_011527561.1:c.6332A>G	XP_011525863.1:p.Glu2111Gly
XM_011527562.1:c.6398A>G	XP_011525864.1:p.Glu2133Gly
XM_011527563.1:c.6122A>G	XP_011525865.1:p.Glu2041Gly
XM_011527561.2:c.5834A>G	XP_011525863.2:p.Glu1945Gly
XM_011527562.2:c.6398A>G	XP_011525864.1:p.Glu2133Gly
XM_017027544.1:c.6398A>G	XP_016883033.1:p.Glu2133Gly
XM_017027545.1:c.5834A>G	XP_016883034.1:p.Glu1945Gly
XM_017027546.1:c.3362A>G	XP_016883035.1:p.Glu1121Gly
NM_014727.3:c.6398A>G MANE Select	NP_055542.1:p.Glu2133Gly