Canonical Allele Identifier: CA405428253

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223847G>C (hg19) ; chr19:g.35732946G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732946G>C , CM000681.2:g.35732946G>C	GRCh38
NC_000019.9:g.36223847G>C , CM000681.1:g.36223847G>C	GRCh37
NC_000019.8:g.40915687G>C	NCBI36
NG_052906.1:g.19928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.703G>C
ENST00000673918.2:c.6331G>C	ENSP00000501283.1:p.Glu2111Gln
ENST00000674114.2:c.3938G>C	ENSP00000501039.2:n.3938G>C
ENST00000684977.1:c.1615G>C	ENSP00000509384.1:p.Glu539Gln
ENST00000689544.1:n.1550G>C
ENST00000691421.1:c.1618G>C	ENSP00000508674.1:p.Glu540Gln
ENST00000691855.1:c.5939G>C
ENST00000692961.1:c.6397G>C	ENSP00000509289.1:p.Glu2133Gln
ENST00000693677.1:c.704+617G>C	ENSP00000509779.1:n.704+617G>C
ENST00000420124.4:c.6397G>C MANE Select	ENSP00000398837.2:p.Glu2133Gln
ENST00000673918.1:c.6331G>C	ENSP00000501283.1:p.Glu2111Gln
ENST00000674114.1:c.3719G>C
ENST00000420124.2:c.6397G>C	ENSP00000398837.1:p.Glu2133Gln
NM_014727.2:c.6397G>C	NP_055542.1:p.Glu2133Gln
XM_011527561.1:c.6331G>C	XP_011525863.1:p.Glu2111Gln
XM_011527562.1:c.6397G>C	XP_011525864.1:p.Glu2133Gln
XM_011527563.1:c.6121G>C	XP_011525865.1:p.Glu2041Gln
XM_011527561.2:c.5833G>C	XP_011525863.2:p.Glu1945Gln
XM_011527562.2:c.6397G>C	XP_011525864.1:p.Glu2133Gln
XM_017027544.1:c.6397G>C	XP_016883033.1:p.Glu2133Gln
XM_017027545.1:c.5833G>C	XP_016883034.1:p.Glu1945Gln
XM_017027546.1:c.3361G>C	XP_016883035.1:p.Glu1121Gln
NM_014727.3:c.6397G>C MANE Select	NP_055542.1:p.Glu2133Gln