Canonical Allele Identifier: CA405419043

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220953G>A (hg19) ; chr19:g.35730052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730052G>A , CM000681.2:g.35730052G>A	GRCh38
NC_000019.9:g.36220953G>A , CM000681.1:g.36220953G>A	GRCh37
NC_000019.8:g.40912793G>A	NCBI36
NG_052906.1:g.17034G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4937G>A	ENSP00000501283.1:p.Arg1646Gln
ENST00000674114.2:c.2544G>A	ENSP00000501039.2:n.2544G>A
ENST00000684977.1:c.221G>A	ENSP00000509384.1:p.Arg74Gln
ENST00000685168.1:c.429G>A
ENST00000689544.1:n.156G>A
ENST00000691421.1:c.224G>A	ENSP00000508674.1:p.Arg75Gln
ENST00000691855.1:c.4545G>A
ENST00000692961.1:c.5003G>A	ENSP00000509289.1:p.Arg1668Gln
ENST00000420124.4:c.5003G>A MANE Select	ENSP00000398837.2:p.Arg1668Gln
ENST00000673918.1:c.4937G>A	ENSP00000501283.1:p.Arg1646Gln
ENST00000674114.1:c.2325G>A
ENST00000420124.2:c.5003G>A	ENSP00000398837.1:p.Arg1668Gln
NM_014727.2:c.5003G>A	NP_055542.1:p.Arg1668Gln
XM_011527561.1:c.4937G>A	XP_011525863.1:p.Arg1646Gln
XM_011527562.1:c.5003G>A	XP_011525864.1:p.Arg1668Gln
XM_011527563.1:c.4727G>A	XP_011525865.1:p.Arg1576Gln
XM_011527561.2:c.4439G>A	XP_011525863.2:p.Arg1480Gln
XM_011527562.2:c.5003G>A	XP_011525864.1:p.Arg1668Gln
XM_017027544.1:c.5003G>A	XP_016883033.1:p.Arg1668Gln
XM_017027545.1:c.4439G>A	XP_016883034.1:p.Arg1480Gln
XM_017027546.1:c.1967G>A	XP_016883035.1:p.Arg656Gln
NM_014727.3:c.5003G>A MANE Select	NP_055542.1:p.Arg1668Gln