Canonical Allele Identifier: CA9385669

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 725353
• ClinVar RCV Id: RCV000899393
• dbSNP Id: rs763144569
• ExAC: 19:36223783 G / A
• gnomAD v2: 19-36223783-G-A
• gnomAD v3: 19-35732882-G-A
• gnomAD v4: 19-35732882-G-A
• COSMIC: COSM3198551
• MyVariant Identifiers: chr19:g.36223783G>A (hg19) ; chr19:g.35732882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732882G>A , CM000681.2:g.35732882G>A	GRCh38
NC_000019.9:g.36223783G>A , CM000681.1:g.36223783G>A	GRCh37
NC_000019.8:g.40915623G>A	NCBI36
NG_052906.1:g.19864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.639G>A
ENST00000673918.2:c.6267G>A	ENSP00000501283.1:p.Ser2089=
ENST00000674114.2:c.3874G>A	ENSP00000501039.2:n.3874G>A
ENST00000684977.1:c.1551G>A	ENSP00000509384.1:p.Ser517=
ENST00000689544.1:n.1486G>A
ENST00000691421.1:c.1554G>A	ENSP00000508674.1:p.Ser518=
ENST00000691855.1:c.5875G>A
ENST00000692961.1:c.6333G>A	ENSP00000509289.1:p.Ser2111=
ENST00000693677.1:c.704+553G>A	ENSP00000509779.1:n.704+553G>A
ENST00000420124.4:c.6333G>A MANE Select	ENSP00000398837.2:p.Ser2111=
ENST00000673918.1:c.6267G>A	ENSP00000501283.1:p.Ser2089=
ENST00000674114.1:c.3655G>A
ENST00000420124.2:c.6333G>A	ENSP00000398837.1:p.Ser2111=
NM_014727.2:c.6333G>A	NP_055542.1:p.Ser2111=
XM_011527561.1:c.6267G>A	XP_011525863.1:p.Ser2089=
XM_011527562.1:c.6333G>A	XP_011525864.1:p.Ser2111=
XM_011527563.1:c.6057G>A	XP_011525865.1:p.Ser2019=
XM_011527561.2:c.5769G>A	XP_011525863.2:p.Ser1923=
XM_011527562.2:c.6333G>A	XP_011525864.1:p.Ser2111=
XM_017027544.1:c.6333G>A	XP_016883033.1:p.Ser2111=
XM_017027545.1:c.5769G>A	XP_016883034.1:p.Ser1923=
XM_017027546.1:c.3297G>A	XP_016883035.1:p.Ser1099=
NM_014727.3:c.6333G>A MANE Select	NP_055542.1:p.Ser2111=