Canonical Allele Identifier: CA405424942

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223428T>A (hg19) ; chr19:g.35732527T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732527T>A , CM000681.2:g.35732527T>A	GRCh38
NC_000019.9:g.36223428T>A , CM000681.1:g.36223428T>A	GRCh37
NC_000019.8:g.40915268T>A	NCBI36
NG_052906.1:g.19509T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.284T>A
ENST00000673918.2:c.5912T>A	ENSP00000501283.1:p.Phe1971Tyr
ENST00000674114.2:c.3519T>A	ENSP00000501039.2:n.3519T>A
ENST00000684977.1:c.1196T>A	ENSP00000509384.1:p.Phe399Tyr
ENST00000689544.1:n.1131T>A
ENST00000691421.1:c.1199T>A	ENSP00000508674.1:p.Phe400Tyr
ENST00000691855.1:c.5520T>A
ENST00000692961.1:c.5978T>A	ENSP00000509289.1:p.Phe1993Tyr
ENST00000693677.1:c.704+198T>A	ENSP00000509779.1:n.704+198T>A
ENST00000420124.4:c.5978T>A MANE Select	ENSP00000398837.2:p.Phe1993Tyr
ENST00000673918.1:c.5912T>A	ENSP00000501283.1:p.Phe1971Tyr
ENST00000674114.1:c.3300T>A
ENST00000420124.2:c.5978T>A	ENSP00000398837.1:p.Phe1993Tyr
NM_014727.2:c.5978T>A	NP_055542.1:p.Phe1993Tyr
XM_011527561.1:c.5912T>A	XP_011525863.1:p.Phe1971Tyr
XM_011527562.1:c.5978T>A	XP_011525864.1:p.Phe1993Tyr
XM_011527563.1:c.5702T>A	XP_011525865.1:p.Phe1901Tyr
XM_011527561.2:c.5414T>A	XP_011525863.2:p.Phe1805Tyr
XM_011527562.2:c.5978T>A	XP_011525864.1:p.Phe1993Tyr
XM_017027544.1:c.5978T>A	XP_016883033.1:p.Phe1993Tyr
XM_017027545.1:c.5414T>A	XP_016883034.1:p.Phe1805Tyr
XM_017027546.1:c.2942T>A	XP_016883035.1:p.Phe981Tyr
NM_014727.3:c.5978T>A MANE Select	NP_055542.1:p.Phe1993Tyr