Canonical Allele Identifier: CA405431527

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36224674G>C (hg19) ; chr19:g.35733773G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1530G>C
ENST00000673918.2:c.6994G>C	ENSP00000501283.1:p.Glu2332Gln
ENST00000674114.2:c.4601G>C	ENSP00000501039.2:n.4601G>C
ENST00000684977.1:c.2255G>C	ENSP00000509384.1:n.2255G>C
ENST00000689544.1:n.2301G>C
ENST00000689929.1:c.11G>C
ENST00000691421.1:c.2191G>C	ENSP00000508674.1:p.Glu731Gln
ENST00000691855.1:c.6602G>C
ENST00000692961.1:c.6984G>C	ENSP00000509289.1:p.Arg2328Ser
ENST00000693175.1:c.11G>C
ENST00000693677.1:c.805G>C	ENSP00000509779.1:p.Glu269Gln
ENST00000420124.4:c.7060G>C MANE Select	ENSP00000398837.2:p.Glu2354Gln
ENST00000673918.1:c.6994G>C	ENSP00000501283.1:p.Glu2332Gln
ENST00000674114.1:c.4382G>C
ENST00000420124.2:c.7060G>C	ENSP00000398837.1:p.Glu2354Gln
ENST00000592092.1:n.440G>C
NM_014727.2:c.7060G>C	NP_055542.1:p.Glu2354Gln
XM_011527561.1:c.6994G>C	XP_011525863.1:p.Glu2332Gln
XM_011527562.1:c.7060G>C	XP_011525864.1:p.Glu2354Gln
XM_011527563.1:c.6784G>C	XP_011525865.1:p.Glu2262Gln
XM_011527561.2:c.6496G>C	XP_011525863.2:p.Glu2166Gln
XM_011527562.2:c.7060G>C	XP_011525864.1:p.Glu2354Gln
XM_017027544.1:c.6970G>C	XP_016883033.1:p.Glu2324Gln
XM_017027545.1:c.6496G>C	XP_016883034.1:p.Glu2166Gln
XM_017027546.1:c.4024G>C	XP_016883035.1:p.Glu1342Gln
NM_014727.3:c.7060G>C MANE Select	NP_055542.1:p.Glu2354Gln