Canonical Allele Identifier: CA307796397

Gene: KMT2B

Linked Data

• dbSNP Id: rs371655677
• gnomAD v2: 19-36223633-G-A
• gnomAD v4: 19-35732732-G-A
• MyVariant Identifiers: chr19:g.36223633G>A (hg19) ; chr19:g.35732732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732732G>A , CM000681.2:g.35732732G>A	GRCh38
NC_000019.9:g.36223633G>A , CM000681.1:g.36223633G>A	GRCh37
NC_000019.8:g.40915473G>A	NCBI36
NG_052906.1:g.19714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.489G>A
ENST00000673918.2:c.6117G>A	ENSP00000501283.1:p.Leu2039=
ENST00000674114.2:c.3724G>A	ENSP00000501039.2:n.3724G>A
ENST00000684977.1:c.1401G>A	ENSP00000509384.1:p.Leu467=
ENST00000689544.1:n.1336G>A
ENST00000691421.1:c.1404G>A	ENSP00000508674.1:p.Leu468=
ENST00000691855.1:c.5725G>A
ENST00000692961.1:c.6183G>A	ENSP00000509289.1:p.Leu2061=
ENST00000693677.1:c.704+403G>A	ENSP00000509779.1:n.704+403G>A
ENST00000420124.4:c.6183G>A MANE Select	ENSP00000398837.2:p.Leu2061=
ENST00000673918.1:c.6117G>A	ENSP00000501283.1:p.Leu2039=
ENST00000674114.1:c.3505G>A
ENST00000420124.2:c.6183G>A	ENSP00000398837.1:p.Leu2061=
NM_014727.2:c.6183G>A	NP_055542.1:p.Leu2061=
XM_011527561.1:c.6117G>A	XP_011525863.1:p.Leu2039=
XM_011527562.1:c.6183G>A	XP_011525864.1:p.Leu2061=
XM_011527563.1:c.5907G>A	XP_011525865.1:p.Leu1969=
XM_011527561.2:c.5619G>A	XP_011525863.2:p.Leu1873=
XM_011527562.2:c.6183G>A	XP_011525864.1:p.Leu2061=
XM_017027544.1:c.6183G>A	XP_016883033.1:p.Leu2061=
XM_017027545.1:c.5619G>A	XP_016883034.1:p.Leu1873=
XM_017027546.1:c.3147G>A	XP_016883035.1:p.Leu1049=
NM_014727.3:c.6183G>A MANE Select	NP_055542.1:p.Leu2061=