Canonical Allele Identifier: CA405427740

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223769G>C (hg19) ; chr19:g.35732868G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732868G>C , CM000681.2:g.35732868G>C	GRCh38
NC_000019.9:g.36223769G>C , CM000681.1:g.36223769G>C	GRCh37
NC_000019.8:g.40915609G>C	NCBI36
NG_052906.1:g.19850G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.625G>C
ENST00000673918.2:c.6253G>C	ENSP00000501283.1:p.Glu2085Gln
ENST00000674114.2:c.3860G>C	ENSP00000501039.2:n.3860G>C
ENST00000684977.1:c.1537G>C	ENSP00000509384.1:p.Glu513Gln
ENST00000689544.1:n.1472G>C
ENST00000691421.1:c.1540G>C	ENSP00000508674.1:p.Glu514Gln
ENST00000691855.1:c.5861G>C
ENST00000692961.1:c.6319G>C	ENSP00000509289.1:p.Glu2107Gln
ENST00000693677.1:c.704+539G>C	ENSP00000509779.1:n.704+539G>C
ENST00000420124.4:c.6319G>C MANE Select	ENSP00000398837.2:p.Glu2107Gln
ENST00000673918.1:c.6253G>C	ENSP00000501283.1:p.Glu2085Gln
ENST00000674114.1:c.3641G>C
ENST00000420124.2:c.6319G>C	ENSP00000398837.1:p.Glu2107Gln
NM_014727.2:c.6319G>C	NP_055542.1:p.Glu2107Gln
XM_011527561.1:c.6253G>C	XP_011525863.1:p.Glu2085Gln
XM_011527562.1:c.6319G>C	XP_011525864.1:p.Glu2107Gln
XM_011527563.1:c.6043G>C	XP_011525865.1:p.Glu2015Gln
XM_011527561.2:c.5755G>C	XP_011525863.2:p.Glu1919Gln
XM_011527562.2:c.6319G>C	XP_011525864.1:p.Glu2107Gln
XM_017027544.1:c.6319G>C	XP_016883033.1:p.Glu2107Gln
XM_017027545.1:c.5755G>C	XP_016883034.1:p.Glu1919Gln
XM_017027546.1:c.3283G>C	XP_016883035.1:p.Glu1095Gln
NM_014727.3:c.6319G>C MANE Select	NP_055542.1:p.Glu2107Gln