Canonical Allele Identifier: CA405424933

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223427T>A (hg19) ; chr19:g.35732526T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732526T>A , CM000681.2:g.35732526T>A	GRCh38
NC_000019.9:g.36223427T>A , CM000681.1:g.36223427T>A	GRCh37
NC_000019.8:g.40915267T>A	NCBI36
NG_052906.1:g.19508T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.283T>A
ENST00000673918.2:c.5911T>A	ENSP00000501283.1:p.Phe1971Ile
ENST00000674114.2:c.3518T>A	ENSP00000501039.2:n.3518T>A
ENST00000684977.1:c.1195T>A	ENSP00000509384.1:p.Phe399Ile
ENST00000689544.1:n.1130T>A
ENST00000691421.1:c.1198T>A	ENSP00000508674.1:p.Phe400Ile
ENST00000691855.1:c.5519T>A
ENST00000692961.1:c.5977T>A	ENSP00000509289.1:p.Phe1993Ile
ENST00000693677.1:c.704+197T>A	ENSP00000509779.1:n.704+197T>A
ENST00000420124.4:c.5977T>A MANE Select	ENSP00000398837.2:p.Phe1993Ile
ENST00000673918.1:c.5911T>A	ENSP00000501283.1:p.Phe1971Ile
ENST00000674114.1:c.3299T>A
ENST00000420124.2:c.5977T>A	ENSP00000398837.1:p.Phe1993Ile
NM_014727.2:c.5977T>A	NP_055542.1:p.Phe1993Ile
XM_011527561.1:c.5911T>A	XP_011525863.1:p.Phe1971Ile
XM_011527562.1:c.5977T>A	XP_011525864.1:p.Phe1993Ile
XM_011527563.1:c.5701T>A	XP_011525865.1:p.Phe1901Ile
XM_011527561.2:c.5413T>A	XP_011525863.2:p.Phe1805Ile
XM_011527562.2:c.5977T>A	XP_011525864.1:p.Phe1993Ile
XM_017027544.1:c.5977T>A	XP_016883033.1:p.Phe1993Ile
XM_017027545.1:c.5413T>A	XP_016883034.1:p.Phe1805Ile
XM_017027546.1:c.2941T>A	XP_016883035.1:p.Phe981Ile
NM_014727.3:c.5977T>A MANE Select	NP_055542.1:p.Phe1993Ile