Canonical Allele Identifier: CA9385637

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2187500
• ClinVar RCV Id: RCV002623543
• dbSNP Id: rs771466265
• ExAC: 19:36223672 G / A
• gnomAD v2: 19-36223672-G-A
• gnomAD v3: 19-35732771-G-A
• gnomAD v4: 19-35732771-G-A
• COSMIC: COSM4554463
• MyVariant Identifiers: chr19:g.36223672G>A (hg19) ; chr19:g.35732771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732771G>A , CM000681.2:g.35732771G>A	GRCh38
NC_000019.9:g.36223672G>A , CM000681.1:g.36223672G>A	GRCh37
NC_000019.8:g.40915512G>A	NCBI36
NG_052906.1:g.19753G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.528G>A
ENST00000673918.2:c.6156G>A	ENSP00000501283.1:p.Ala2052=
ENST00000674114.2:c.3763G>A	ENSP00000501039.2:n.3763G>A
ENST00000684977.1:c.1440G>A	ENSP00000509384.1:p.Ala480=
ENST00000689544.1:n.1375G>A
ENST00000691421.1:c.1443G>A	ENSP00000508674.1:p.Ala481=
ENST00000691855.1:c.5764G>A
ENST00000692961.1:c.6222G>A	ENSP00000509289.1:p.Ala2074=
ENST00000693677.1:c.704+442G>A	ENSP00000509779.1:n.704+442G>A
ENST00000420124.4:c.6222G>A MANE Select	ENSP00000398837.2:p.Ala2074=
ENST00000673918.1:c.6156G>A	ENSP00000501283.1:p.Ala2052=
ENST00000674114.1:c.3544G>A
ENST00000420124.2:c.6222G>A	ENSP00000398837.1:p.Ala2074=
NM_014727.2:c.6222G>A	NP_055542.1:p.Ala2074=
XM_011527561.1:c.6156G>A	XP_011525863.1:p.Ala2052=
XM_011527562.1:c.6222G>A	XP_011525864.1:p.Ala2074=
XM_011527563.1:c.5946G>A	XP_011525865.1:p.Ala1982=
XM_011527561.2:c.5658G>A	XP_011525863.2:p.Ala1886=
XM_011527562.2:c.6222G>A	XP_011525864.1:p.Ala2074=
XM_017027544.1:c.6222G>A	XP_016883033.1:p.Ala2074=
XM_017027545.1:c.5658G>A	XP_016883034.1:p.Ala1886=
XM_017027546.1:c.3186G>A	XP_016883035.1:p.Ala1062=
NM_014727.3:c.6222G>A MANE Select	NP_055542.1:p.Ala2074=