Canonical Allele Identifier: CA9385665

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 779187
• ClinVar RCV Id: RCV000959965
• dbSNP Id: rs200327646
• ExAC: 19:36223771 G / A
• gnomAD v2: 19-36223771-G-A
• gnomAD v3: 19-35732870-G-A
• gnomAD v4: 19-35732870-G-A
• MyVariant Identifiers: chr19:g.36223771G>A (hg19) ; chr19:g.35732870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732870G>A , CM000681.2:g.35732870G>A	GRCh38
NC_000019.9:g.36223771G>A , CM000681.1:g.36223771G>A	GRCh37
NC_000019.8:g.40915611G>A	NCBI36
NG_052906.1:g.19852G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.627G>A
ENST00000673918.2:c.6255G>A	ENSP00000501283.1:p.Glu2085=
ENST00000674114.2:c.3862G>A	ENSP00000501039.2:n.3862G>A
ENST00000684977.1:c.1539G>A	ENSP00000509384.1:p.Glu513=
ENST00000689544.1:n.1474G>A
ENST00000691421.1:c.1542G>A	ENSP00000508674.1:p.Glu514=
ENST00000691855.1:c.5863G>A
ENST00000692961.1:c.6321G>A	ENSP00000509289.1:p.Glu2107=
ENST00000693677.1:c.704+541G>A	ENSP00000509779.1:n.704+541G>A
ENST00000420124.4:c.6321G>A MANE Select	ENSP00000398837.2:p.Glu2107=
ENST00000673918.1:c.6255G>A	ENSP00000501283.1:p.Glu2085=
ENST00000674114.1:c.3643G>A
ENST00000420124.2:c.6321G>A	ENSP00000398837.1:p.Glu2107=
NM_014727.2:c.6321G>A	NP_055542.1:p.Glu2107=
XM_011527561.1:c.6255G>A	XP_011525863.1:p.Glu2085=
XM_011527562.1:c.6321G>A	XP_011525864.1:p.Glu2107=
XM_011527563.1:c.6045G>A	XP_011525865.1:p.Glu2015=
XM_011527561.2:c.5757G>A	XP_011525863.2:p.Glu1919=
XM_011527562.2:c.6321G>A	XP_011525864.1:p.Glu2107=
XM_017027544.1:c.6321G>A	XP_016883033.1:p.Glu2107=
XM_017027545.1:c.5757G>A	XP_016883034.1:p.Glu1919=
XM_017027546.1:c.3285G>A	XP_016883035.1:p.Glu1095=
NM_014727.3:c.6321G>A MANE Select	NP_055542.1:p.Glu2107=