Canonical Allele Identifier: CA307795980

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2893166
• ClinVar RCV Id: RCV003732728
• dbSNP Id: rs1048967804
• gnomAD v2: 19-36223405-A-T
• gnomAD v3: 19-35732504-A-T
• gnomAD v4: 19-35732504-A-T
• MyVariant Identifiers: chr19:g.36223405A>T (hg19) ; chr19:g.35732504A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732504A>T , CM000681.2:g.35732504A>T	GRCh38
NC_000019.9:g.36223405A>T , CM000681.1:g.36223405A>T	GRCh37
NC_000019.8:g.40915245A>T	NCBI36
NG_052906.1:g.19486A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.261A>T
ENST00000673918.2:c.5889A>T	ENSP00000501283.1:p.Gly1963=
ENST00000674114.2:c.3496A>T	ENSP00000501039.2:n.3496A>T
ENST00000684977.1:c.1173A>T	ENSP00000509384.1:p.Gly391=
ENST00000689544.1:n.1108A>T
ENST00000691421.1:c.1176A>T	ENSP00000508674.1:p.Gly392=
ENST00000691855.1:c.5497A>T
ENST00000692961.1:c.5955A>T	ENSP00000509289.1:p.Gly1985=
ENST00000693677.1:c.704+175A>T	ENSP00000509779.1:n.704+175A>T
ENST00000420124.4:c.5955A>T MANE Select	ENSP00000398837.2:p.Gly1985=
ENST00000673918.1:c.5889A>T	ENSP00000501283.1:p.Gly1963=
ENST00000674114.1:c.3277A>T
ENST00000420124.2:c.5955A>T	ENSP00000398837.1:p.Gly1985=
NM_014727.2:c.5955A>T	NP_055542.1:p.Gly1985=
XM_011527561.1:c.5889A>T	XP_011525863.1:p.Gly1963=
XM_011527562.1:c.5955A>T	XP_011525864.1:p.Gly1985=
XM_011527563.1:c.5679A>T	XP_011525865.1:p.Gly1893=
XM_011527561.2:c.5391A>T	XP_011525863.2:p.Gly1797=
XM_011527562.2:c.5955A>T	XP_011525864.1:p.Gly1985=
XM_017027544.1:c.5955A>T	XP_016883033.1:p.Gly1985=
XM_017027545.1:c.5391A>T	XP_016883034.1:p.Gly1797=
XM_017027546.1:c.2919A>T	XP_016883035.1:p.Gly973=
NM_014727.3:c.5955A>T MANE Select	NP_055542.1:p.Gly1985=