Canonical Allele Identifier: CA405429018

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2984913
• ClinVar RCV Id: RCV003846056
• MyVariant Identifiers: chr19:g.36223967C>G (hg19) ; chr19:g.35733066C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733066C>G , CM000681.2:g.35733066C>G	GRCh38
NC_000019.9:g.36223967C>G , CM000681.1:g.36223967C>G	GRCh37
NC_000019.8:g.40915807C>G	NCBI36
NG_052906.1:g.20048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.823C>G
ENST00000673918.2:c.6451C>G	ENSP00000501283.1:p.Arg2151Gly
ENST00000674114.2:c.4058C>G	ENSP00000501039.2:n.4058C>G
ENST00000684977.1:c.1735C>G	ENSP00000509384.1:p.Arg579Gly
ENST00000689544.1:n.1670C>G
ENST00000691421.1:c.1738C>G	ENSP00000508674.1:p.Arg580Gly
ENST00000691855.1:c.6059C>G
ENST00000692961.1:c.6517C>G	ENSP00000509289.1:p.Arg2173Gly
ENST00000693677.1:c.705-531C>G	ENSP00000509779.1:n.705-531C>G
ENST00000420124.4:c.6517C>G MANE Select	ENSP00000398837.2:p.Arg2173Gly
ENST00000673918.1:c.6451C>G	ENSP00000501283.1:p.Arg2151Gly
ENST00000674114.1:c.3839C>G
ENST00000420124.2:c.6517C>G	ENSP00000398837.1:p.Arg2173Gly
NM_014727.2:c.6517C>G	NP_055542.1:p.Arg2173Gly
XM_011527561.1:c.6451C>G	XP_011525863.1:p.Arg2151Gly
XM_011527562.1:c.6517C>G	XP_011525864.1:p.Arg2173Gly
XM_011527563.1:c.6241C>G	XP_011525865.1:p.Arg2081Gly
XM_011527561.2:c.5953C>G	XP_011525863.2:p.Arg1985Gly
XM_011527562.2:c.6517C>G	XP_011525864.1:p.Arg2173Gly
XM_017027544.1:c.6517C>G	XP_016883033.1:p.Arg2173Gly
XM_017027545.1:c.5953C>G	XP_016883034.1:p.Arg1985Gly
XM_017027546.1:c.3481C>G	XP_016883035.1:p.Arg1161Gly
NM_014727.3:c.6517C>G MANE Select	NP_055542.1:p.Arg2173Gly