Canonical Allele Identifier: CA405427693

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 808523
• ClinVar RCV Id: RCV000996846
• dbSNP Id: rs1165953081
• gnomAD v2: 19-36223760-C-T
• gnomAD v4: 19-35732859-C-T
• MyVariant Identifiers: chr19:g.36223760C>T (hg19) ; chr19:g.35732859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732859C>T , CM000681.2:g.35732859C>T	GRCh38
NC_000019.9:g.36223760C>T , CM000681.1:g.36223760C>T	GRCh37
NC_000019.8:g.40915600C>T	NCBI36
NG_052906.1:g.19841C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.616C>T
ENST00000673918.2:c.6244C>T	ENSP00000501283.1:p.Arg2082Trp
ENST00000674114.2:c.3851C>T	ENSP00000501039.2:n.3851C>T
ENST00000684977.1:c.1528C>T	ENSP00000509384.1:p.Arg510Trp
ENST00000689544.1:n.1463C>T
ENST00000691421.1:c.1531C>T	ENSP00000508674.1:p.Arg511Trp
ENST00000691855.1:c.5852C>T
ENST00000692961.1:c.6310C>T	ENSP00000509289.1:p.Arg2104Trp
ENST00000693677.1:c.704+530C>T	ENSP00000509779.1:n.704+530C>T
ENST00000420124.4:c.6310C>T MANE Select	ENSP00000398837.2:p.Arg2104Trp
ENST00000673918.1:c.6244C>T	ENSP00000501283.1:p.Arg2082Trp
ENST00000674114.1:c.3632C>T
ENST00000420124.2:c.6310C>T	ENSP00000398837.1:p.Arg2104Trp
NM_014727.2:c.6310C>T	NP_055542.1:p.Arg2104Trp
XM_011527561.1:c.6244C>T	XP_011525863.1:p.Arg2082Trp
XM_011527562.1:c.6310C>T	XP_011525864.1:p.Arg2104Trp
XM_011527563.1:c.6034C>T	XP_011525865.1:p.Arg2012Trp
XM_011527561.2:c.5746C>T	XP_011525863.2:p.Arg1916Trp
XM_011527562.2:c.6310C>T	XP_011525864.1:p.Arg2104Trp
XM_017027544.1:c.6310C>T	XP_016883033.1:p.Arg2104Trp
XM_017027545.1:c.5746C>T	XP_016883034.1:p.Arg1916Trp
XM_017027546.1:c.3274C>T	XP_016883035.1:p.Arg1092Trp
NM_014727.3:c.6310C>T MANE Select	NP_055542.1:p.Arg2104Trp