Canonical Allele Identifier: CA405429684

Gene: KMT2B

Linked Data

• dbSNP Id: rs1599696118
• gnomAD v4: 19-35733196-A-G
• MyVariant Identifiers: chr19:g.36224097A>G (hg19) ; chr19:g.35733196A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733196A>G , CM000681.2:g.35733196A>G	GRCh38
NC_000019.9:g.36224097A>G , CM000681.1:g.36224097A>G	GRCh37
NC_000019.8:g.40915937A>G	NCBI36
NG_052906.1:g.20178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.953A>G
ENST00000673918.2:c.6581A>G	ENSP00000501283.1:p.Lys2194Arg
ENST00000674114.2:c.4188A>G	ENSP00000501039.2:n.4188A>G
ENST00000684977.1:c.1865A>G	ENSP00000509384.1:p.Lys622Arg
ENST00000689544.1:n.1800A>G
ENST00000691421.1:c.1868A>G	ENSP00000508674.1:p.Lys623Arg
ENST00000691855.1:c.6189A>G
ENST00000692961.1:c.6647A>G	ENSP00000509289.1:p.Lys2216Arg
ENST00000693677.1:c.705-401A>G	ENSP00000509779.1:n.705-401A>G
ENST00000420124.4:c.6647A>G MANE Select	ENSP00000398837.2:p.Lys2216Arg
ENST00000673918.1:c.6581A>G	ENSP00000501283.1:p.Lys2194Arg
ENST00000674114.1:c.3969A>G
ENST00000420124.2:c.6647A>G	ENSP00000398837.1:p.Lys2216Arg
NM_014727.2:c.6647A>G	NP_055542.1:p.Lys2216Arg
XM_011527561.1:c.6581A>G	XP_011525863.1:p.Lys2194Arg
XM_011527562.1:c.6647A>G	XP_011525864.1:p.Lys2216Arg
XM_011527563.1:c.6371A>G	XP_011525865.1:p.Lys2124Arg
XM_011527561.2:c.6083A>G	XP_011525863.2:p.Lys2028Arg
XM_011527562.2:c.6647A>G	XP_011525864.1:p.Lys2216Arg
XM_017027544.1:c.6647A>G	XP_016883033.1:p.Lys2216Arg
XM_017027545.1:c.6083A>G	XP_016883034.1:p.Lys2028Arg
XM_017027546.1:c.3611A>G	XP_016883035.1:p.Lys1204Arg
NM_014727.3:c.6647A>G MANE Select	NP_055542.1:p.Lys2216Arg