Canonical Allele Identifier: CA9385584

Gene: KMT2B

Linked Data

• dbSNP Id: rs760429557
• ExAC: 19:36223474 A / G
• gnomAD v2: 19-36223474-A-G
• gnomAD v4: 19-35732573-A-G
• MyVariant Identifiers: chr19:g.36223474A>G (hg19) ; chr19:g.35732573A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732573A>G , CM000681.2:g.35732573A>G	GRCh38
NC_000019.9:g.36223474A>G , CM000681.1:g.36223474A>G	GRCh37
NC_000019.8:g.40915314A>G	NCBI36
NG_052906.1:g.19555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.330A>G
ENST00000673918.2:c.5958A>G	ENSP00000501283.1:p.Val1986=
ENST00000674114.2:c.3565A>G	ENSP00000501039.2:n.3565A>G
ENST00000684977.1:c.1242A>G	ENSP00000509384.1:p.Val414=
ENST00000689544.1:n.1177A>G
ENST00000691421.1:c.1245A>G	ENSP00000508674.1:p.Val415=
ENST00000691855.1:c.5566A>G
ENST00000692961.1:c.6024A>G	ENSP00000509289.1:p.Val2008=
ENST00000693677.1:c.704+244A>G	ENSP00000509779.1:n.704+244A>G
ENST00000420124.4:c.6024A>G MANE Select	ENSP00000398837.2:p.Val2008=
ENST00000673918.1:c.5958A>G	ENSP00000501283.1:p.Val1986=
ENST00000674114.1:c.3346A>G
ENST00000420124.2:c.6024A>G	ENSP00000398837.1:p.Val2008=
NM_014727.2:c.6024A>G	NP_055542.1:p.Val2008=
XM_011527561.1:c.5958A>G	XP_011525863.1:p.Val1986=
XM_011527562.1:c.6024A>G	XP_011525864.1:p.Val2008=
XM_011527563.1:c.5748A>G	XP_011525865.1:p.Val1916=
XM_011527561.2:c.5460A>G	XP_011525863.2:p.Val1820=
XM_011527562.2:c.6024A>G	XP_011525864.1:p.Val2008=
XM_017027544.1:c.6024A>G	XP_016883033.1:p.Val2008=
XM_017027545.1:c.5460A>G	XP_016883034.1:p.Val1820=
XM_017027546.1:c.2988A>G	XP_016883035.1:p.Val996=
NM_014727.3:c.6024A>G MANE Select	NP_055542.1:p.Val2008=