Canonical Allele Identifier: CA9385639

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1290066
• ClinVar RCV Id: RCV001714956
• dbSNP Id: rs746249057
• ExAC: 19:36223675 G / A
• gnomAD v2: 19-36223675-G-A
• gnomAD v3: 19-35732774-G-A
• gnomAD v4: 19-35732774-G-A
• COSMIC: COSM3198544
• MyVariant Identifiers: chr19:g.36223675G>A (hg19) ; chr19:g.35732774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732774G>A , CM000681.2:g.35732774G>A	GRCh38
NC_000019.9:g.36223675G>A , CM000681.1:g.36223675G>A	GRCh37
NC_000019.8:g.40915515G>A	NCBI36
NG_052906.1:g.19756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.531G>A
ENST00000673918.2:c.6159G>A	ENSP00000501283.1:p.Val2053=
ENST00000674114.2:c.3766G>A	ENSP00000501039.2:n.3766G>A
ENST00000684977.1:c.1443G>A	ENSP00000509384.1:p.Val481=
ENST00000689544.1:n.1378G>A
ENST00000691421.1:c.1446G>A	ENSP00000508674.1:p.Val482=
ENST00000691855.1:c.5767G>A
ENST00000692961.1:c.6225G>A	ENSP00000509289.1:p.Val2075=
ENST00000693677.1:c.704+445G>A	ENSP00000509779.1:n.704+445G>A
ENST00000420124.4:c.6225G>A MANE Select	ENSP00000398837.2:p.Val2075=
ENST00000673918.1:c.6159G>A	ENSP00000501283.1:p.Val2053=
ENST00000674114.1:c.3547G>A
ENST00000420124.2:c.6225G>A	ENSP00000398837.1:p.Val2075=
NM_014727.2:c.6225G>A	NP_055542.1:p.Val2075=
XM_011527561.1:c.6159G>A	XP_011525863.1:p.Val2053=
XM_011527562.1:c.6225G>A	XP_011525864.1:p.Val2075=
XM_011527563.1:c.5949G>A	XP_011525865.1:p.Val1983=
XM_011527561.2:c.5661G>A	XP_011525863.2:p.Val1887=
XM_011527562.2:c.6225G>A	XP_011525864.1:p.Val2075=
XM_017027544.1:c.6225G>A	XP_016883033.1:p.Val2075=
XM_017027545.1:c.5661G>A	XP_016883034.1:p.Val1887=
XM_017027546.1:c.3189G>A	XP_016883035.1:p.Val1063=
NM_014727.3:c.6225G>A MANE Select	NP_055542.1:p.Val2075=