Canonical Allele Identifier: CA9385586

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2049559
• ClinVar RCV Id: RCV002937157
• dbSNP Id: rs548255667
• ExAC: 19:36223478 G / T
• gnomAD v2: 19-36223478-G-T
• gnomAD v3: 19-35732577-G-T
• gnomAD v4: 19-35732577-G-T
• MyVariant Identifiers: chr19:g.36223478G>T (hg19) ; chr19:g.35732577G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732577G>T , CM000681.2:g.35732577G>T	GRCh38
NC_000019.9:g.36223478G>T , CM000681.1:g.36223478G>T	GRCh37
NC_000019.8:g.40915318G>T	NCBI36
NG_052906.1:g.19559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.334G>T
ENST00000673918.2:c.5962G>T	ENSP00000501283.1:p.Ala1988Ser
ENST00000674114.2:c.3569G>T	ENSP00000501039.2:n.3569G>T
ENST00000684977.1:c.1246G>T	ENSP00000509384.1:p.Ala416Ser
ENST00000689544.1:n.1181G>T
ENST00000691421.1:c.1249G>T	ENSP00000508674.1:p.Ala417Ser
ENST00000691855.1:c.5570G>T
ENST00000692961.1:c.6028G>T	ENSP00000509289.1:p.Ala2010Ser
ENST00000693677.1:c.704+248G>T	ENSP00000509779.1:n.704+248G>T
ENST00000420124.4:c.6028G>T MANE Select	ENSP00000398837.2:p.Ala2010Ser
ENST00000673918.1:c.5962G>T	ENSP00000501283.1:p.Ala1988Ser
ENST00000674114.1:c.3350G>T
ENST00000420124.2:c.6028G>T	ENSP00000398837.1:p.Ala2010Ser
NM_014727.2:c.6028G>T	NP_055542.1:p.Ala2010Ser
XM_011527561.1:c.5962G>T	XP_011525863.1:p.Ala1988Ser
XM_011527562.1:c.6028G>T	XP_011525864.1:p.Ala2010Ser
XM_011527563.1:c.5752G>T	XP_011525865.1:p.Ala1918Ser
XM_011527561.2:c.5464G>T	XP_011525863.2:p.Ala1822Ser
XM_011527562.2:c.6028G>T	XP_011525864.1:p.Ala2010Ser
XM_017027544.1:c.6028G>T	XP_016883033.1:p.Ala2010Ser
XM_017027545.1:c.5464G>T	XP_016883034.1:p.Ala1822Ser
XM_017027546.1:c.2992G>T	XP_016883035.1:p.Ala998Ser
NM_014727.3:c.6028G>T MANE Select	NP_055542.1:p.Ala2010Ser