Canonical Allele Identifier: CA307795932

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2349831
• ClinVar RCV Id: RCV002977292
• dbSNP Id: rs949868315
• gnomAD v2: 19-36223362-A-G
• gnomAD v3: 19-35732461-A-G
• gnomAD v4: 19-35732461-A-G
• MyVariant Identifiers: chr19:g.36223362A>G (hg19) ; chr19:g.35732461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732461A>G , CM000681.2:g.35732461A>G	GRCh38
NC_000019.9:g.36223362A>G , CM000681.1:g.36223362A>G	GRCh37
NC_000019.8:g.40915202A>G	NCBI36
NG_052906.1:g.19443A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.218A>G
ENST00000673918.2:c.5846A>G	ENSP00000501283.1:p.Glu1949Gly
ENST00000674114.2:c.3453A>G	ENSP00000501039.2:n.3453A>G
ENST00000684977.1:c.1130A>G	ENSP00000509384.1:p.Glu377Gly
ENST00000689544.1:n.1065A>G
ENST00000691421.1:c.1133A>G	ENSP00000508674.1:p.Glu378Gly
ENST00000691855.1:c.5454A>G
ENST00000692961.1:c.5912A>G	ENSP00000509289.1:p.Glu1971Gly
ENST00000693677.1:c.704+132A>G	ENSP00000509779.1:n.704+132A>G
ENST00000420124.4:c.5912A>G MANE Select	ENSP00000398837.2:p.Glu1971Gly
ENST00000673918.1:c.5846A>G	ENSP00000501283.1:p.Glu1949Gly
ENST00000674114.1:c.3234A>G
ENST00000420124.2:c.5912A>G	ENSP00000398837.1:p.Glu1971Gly
NM_014727.2:c.5912A>G	NP_055542.1:p.Glu1971Gly
XM_011527561.1:c.5846A>G	XP_011525863.1:p.Glu1949Gly
XM_011527562.1:c.5912A>G	XP_011525864.1:p.Glu1971Gly
XM_011527563.1:c.5636A>G	XP_011525865.1:p.Glu1879Gly
XM_011527561.2:c.5348A>G	XP_011525863.2:p.Glu1783Gly
XM_011527562.2:c.5912A>G	XP_011525864.1:p.Glu1971Gly
XM_017027544.1:c.5912A>G	XP_016883033.1:p.Glu1971Gly
XM_017027545.1:c.5348A>G	XP_016883034.1:p.Glu1783Gly
XM_017027546.1:c.2876A>G	XP_016883035.1:p.Glu959Gly
NM_014727.3:c.5912A>G MANE Select	NP_055542.1:p.Glu1971Gly