Canonical Allele Identifier: CA9385844

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 430821
• ClinVar RCV Id: RCV002063861
• dbSNP Id: rs190929421
• ExAC: 19:36224674 G / A
• gnomAD v2: 19-36224674-G-A
• gnomAD v3: 19-35733773-G-A
• gnomAD v4: 19-35733773-G-A
• MyVariant Identifiers: chr19:g.36224674G>A (hg19) ; chr19:g.35733773G>A (hg38)
• PubMed: PMID:29255178

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733773G>A , CM000681.2:g.35733773G>A	GRCh38
NC_000019.9:g.36224674G>A , CM000681.1:g.36224674G>A	GRCh37
NC_000019.8:g.40916514G>A	NCBI36
NG_052906.1:g.20755G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1530G>A
ENST00000673918.2:c.6994G>A	ENSP00000501283.1:p.Glu2332Lys
ENST00000674114.2:c.4601G>A	ENSP00000501039.2:n.4601G>A
ENST00000684977.1:c.2255G>A	ENSP00000509384.1:n.2255G>A
ENST00000689544.1:n.2301G>A
ENST00000689929.1:c.11G>A
ENST00000691421.1:c.2191G>A	ENSP00000508674.1:p.Glu731Lys
ENST00000691855.1:c.6602G>A
ENST00000692961.1:c.6984G>A	ENSP00000509289.1:p.Arg2328=
ENST00000693175.1:c.11G>A
ENST00000693677.1:c.805G>A	ENSP00000509779.1:p.Glu269Lys
ENST00000420124.4:c.7060G>A MANE Select	ENSP00000398837.2:p.Glu2354Lys
ENST00000673918.1:c.6994G>A	ENSP00000501283.1:p.Glu2332Lys
ENST00000674114.1:c.4382G>A
ENST00000420124.2:c.7060G>A	ENSP00000398837.1:p.Glu2354Lys
ENST00000592092.1:n.440G>A
NM_014727.2:c.7060G>A	NP_055542.1:p.Glu2354Lys
XM_011527561.1:c.6994G>A	XP_011525863.1:p.Glu2332Lys
XM_011527562.1:c.7060G>A	XP_011525864.1:p.Glu2354Lys
XM_011527563.1:c.6784G>A	XP_011525865.1:p.Glu2262Lys
XM_011527561.2:c.6496G>A	XP_011525863.2:p.Glu2166Lys
XM_011527562.2:c.7060G>A	XP_011525864.1:p.Glu2354Lys
XM_017027544.1:c.6970G>A	XP_016883033.1:p.Glu2324Lys
XM_017027545.1:c.6496G>A	XP_016883034.1:p.Glu2166Lys
XM_017027546.1:c.4024G>A	XP_016883035.1:p.Glu1342Lys
NM_014727.3:c.7060G>A MANE Select	NP_055542.1:p.Glu2354Lys