Canonical Allele Identifier: CA9385580

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 3015490
• ClinVar RCV Id: RCV003871097
• dbSNP Id: rs775019012
• ExAC: 19:36223468 G / A
• gnomAD v2: 19-36223468-G-A
• gnomAD v3: 19-35732567-G-A
• gnomAD v4: 19-35732567-G-A
• MyVariant Identifiers: chr19:g.36223468G>A (hg19) ; chr19:g.35732567G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732567G>A , CM000681.2:g.35732567G>A	GRCh38
NC_000019.9:g.36223468G>A , CM000681.1:g.36223468G>A	GRCh37
NC_000019.8:g.40915308G>A	NCBI36
NG_052906.1:g.19549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.324G>A
ENST00000673918.2:c.5952G>A	ENSP00000501283.1:p.Glu1984=
ENST00000674114.2:c.3559G>A	ENSP00000501039.2:n.3559G>A
ENST00000684977.1:c.1236G>A	ENSP00000509384.1:p.Glu412=
ENST00000689544.1:n.1171G>A
ENST00000691421.1:c.1239G>A	ENSP00000508674.1:p.Glu413=
ENST00000691855.1:c.5560G>A
ENST00000692961.1:c.6018G>A	ENSP00000509289.1:p.Glu2006=
ENST00000693677.1:c.704+238G>A	ENSP00000509779.1:n.704+238G>A
ENST00000420124.4:c.6018G>A MANE Select	ENSP00000398837.2:p.Glu2006=
ENST00000673918.1:c.5952G>A	ENSP00000501283.1:p.Glu1984=
ENST00000674114.1:c.3340G>A
ENST00000420124.2:c.6018G>A	ENSP00000398837.1:p.Glu2006=
NM_014727.2:c.6018G>A	NP_055542.1:p.Glu2006=
XM_011527561.1:c.5952G>A	XP_011525863.1:p.Glu1984=
XM_011527562.1:c.6018G>A	XP_011525864.1:p.Glu2006=
XM_011527563.1:c.5742G>A	XP_011525865.1:p.Glu1914=
XM_011527561.2:c.5454G>A	XP_011525863.2:p.Glu1818=
XM_011527562.2:c.6018G>A	XP_011525864.1:p.Glu2006=
XM_017027544.1:c.6018G>A	XP_016883033.1:p.Glu2006=
XM_017027545.1:c.5454G>A	XP_016883034.1:p.Glu1818=
XM_017027546.1:c.2982G>A	XP_016883035.1:p.Glu994=
NM_014727.3:c.6018G>A MANE Select	NP_055542.1:p.Glu2006=