Canonical Allele Identifier: CA405427857

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223785A>T (hg19) ; chr19:g.35732884A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732884A>T , CM000681.2:g.35732884A>T	GRCh38
NC_000019.9:g.36223785A>T , CM000681.1:g.36223785A>T	GRCh37
NC_000019.8:g.40915625A>T	NCBI36
NG_052906.1:g.19866A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.641A>T
ENST00000673918.2:c.6269A>T	ENSP00000501283.1:p.Glu2090Val
ENST00000674114.2:c.3876A>T	ENSP00000501039.2:n.3876A>T
ENST00000684977.1:c.1553A>T	ENSP00000509384.1:p.Glu518Val
ENST00000689544.1:n.1488A>T
ENST00000691421.1:c.1556A>T	ENSP00000508674.1:p.Glu519Val
ENST00000691855.1:c.5877A>T
ENST00000692961.1:c.6335A>T	ENSP00000509289.1:p.Glu2112Val
ENST00000693677.1:c.704+555A>T	ENSP00000509779.1:n.704+555A>T
ENST00000420124.4:c.6335A>T MANE Select	ENSP00000398837.2:p.Glu2112Val
ENST00000673918.1:c.6269A>T	ENSP00000501283.1:p.Glu2090Val
ENST00000674114.1:c.3657A>T
ENST00000420124.2:c.6335A>T	ENSP00000398837.1:p.Glu2112Val
NM_014727.2:c.6335A>T	NP_055542.1:p.Glu2112Val
XM_011527561.1:c.6269A>T	XP_011525863.1:p.Glu2090Val
XM_011527562.1:c.6335A>T	XP_011525864.1:p.Glu2112Val
XM_011527563.1:c.6059A>T	XP_011525865.1:p.Glu2020Val
XM_011527561.2:c.5771A>T	XP_011525863.2:p.Glu1924Val
XM_011527562.2:c.6335A>T	XP_011525864.1:p.Glu2112Val
XM_017027544.1:c.6335A>T	XP_016883033.1:p.Glu2112Val
XM_017027545.1:c.5771A>T	XP_016883034.1:p.Glu1924Val
XM_017027546.1:c.3299A>T	XP_016883035.1:p.Glu1100Val
NM_014727.3:c.6335A>T MANE Select	NP_055542.1:p.Glu2112Val