Canonical Allele Identifier: CA405428888

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223947T>G (hg19) ; chr19:g.35733046T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733046T>G , CM000681.2:g.35733046T>G	GRCh38
NC_000019.9:g.36223947T>G , CM000681.1:g.36223947T>G	GRCh37
NC_000019.8:g.40915787T>G	NCBI36
NG_052906.1:g.20028T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.803T>G
ENST00000673918.2:c.6431T>G	ENSP00000501283.1:p.Leu2144Arg
ENST00000674114.2:c.4038T>G	ENSP00000501039.2:n.4038T>G
ENST00000684977.1:c.1715T>G	ENSP00000509384.1:p.Leu572Arg
ENST00000689544.1:n.1650T>G
ENST00000691421.1:c.1718T>G	ENSP00000508674.1:p.Leu573Arg
ENST00000691855.1:c.6039T>G
ENST00000692961.1:c.6497T>G	ENSP00000509289.1:p.Leu2166Arg
ENST00000693677.1:c.705-551T>G	ENSP00000509779.1:n.705-551T>G
ENST00000420124.4:c.6497T>G MANE Select	ENSP00000398837.2:p.Leu2166Arg
ENST00000673918.1:c.6431T>G	ENSP00000501283.1:p.Leu2144Arg
ENST00000674114.1:c.3819T>G
ENST00000420124.2:c.6497T>G	ENSP00000398837.1:p.Leu2166Arg
NM_014727.2:c.6497T>G	NP_055542.1:p.Leu2166Arg
XM_011527561.1:c.6431T>G	XP_011525863.1:p.Leu2144Arg
XM_011527562.1:c.6497T>G	XP_011525864.1:p.Leu2166Arg
XM_011527563.1:c.6221T>G	XP_011525865.1:p.Leu2074Arg
XM_011527561.2:c.5933T>G	XP_011525863.2:p.Leu1978Arg
XM_011527562.2:c.6497T>G	XP_011525864.1:p.Leu2166Arg
XM_017027544.1:c.6497T>G	XP_016883033.1:p.Leu2166Arg
XM_017027545.1:c.5933T>G	XP_016883034.1:p.Leu1978Arg
XM_017027546.1:c.3461T>G	XP_016883035.1:p.Leu1154Arg
NM_014727.3:c.6497T>G MANE Select	NP_055542.1:p.Leu2166Arg