Canonical Allele Identifier: CA405431524

Gene: KMT2B

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1530G>T
ENST00000673918.2:c.6994G>T	ENSP00000501283.1:p.Glu2332Ter
ENST00000674114.2:c.4601G>T	ENSP00000501039.2:n.4601G>T
ENST00000684977.1:c.2255G>T	ENSP00000509384.1:n.2255G>T
ENST00000689544.1:n.2301G>T
ENST00000689929.1:c.11G>T
ENST00000691421.1:c.2191G>T	ENSP00000508674.1:p.Glu731Ter
ENST00000691855.1:c.6602G>T
ENST00000692961.1:c.6984G>T	ENSP00000509289.1:p.Arg2328Ser
ENST00000693175.1:c.11G>T
ENST00000693677.1:c.805G>T	ENSP00000509779.1:p.Glu269Ter
ENST00000420124.4:c.7060G>T MANE Select	ENSP00000398837.2:p.Glu2354Ter
ENST00000673918.1:c.6994G>T	ENSP00000501283.1:p.Glu2332Ter
ENST00000674114.1:c.4382G>T
ENST00000420124.2:c.7060G>T	ENSP00000398837.1:p.Glu2354Ter
ENST00000592092.1:n.440G>T
NM_014727.2:c.7060G>T	NP_055542.1:p.Glu2354Ter
XM_011527561.1:c.6994G>T	XP_011525863.1:p.Glu2332Ter
XM_011527562.1:c.7060G>T	XP_011525864.1:p.Glu2354Ter
XM_011527563.1:c.6784G>T	XP_011525865.1:p.Glu2262Ter
XM_011527561.2:c.6496G>T	XP_011525863.2:p.Glu2166Ter
XM_011527562.2:c.7060G>T	XP_011525864.1:p.Glu2354Ter
XM_017027544.1:c.6970G>T	XP_016883033.1:p.Glu2324Ter
XM_017027545.1:c.6496G>T	XP_016883034.1:p.Glu2166Ter
XM_017027546.1:c.4024G>T	XP_016883035.1:p.Glu1342Ter
NM_014727.3:c.7060G>T MANE Select	NP_055542.1:p.Glu2354Ter