Canonical Allele Identifier: CA405428884

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2575610
• ClinVar RCV Id: RCV003321176
• MyVariant Identifiers: chr19:g.36223946C>T (hg19) ; chr19:g.35733045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733045C>T , CM000681.2:g.35733045C>T	GRCh38
NC_000019.9:g.36223946C>T , CM000681.1:g.36223946C>T	GRCh37
NC_000019.8:g.40915786C>T	NCBI36
NG_052906.1:g.20027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.802C>T
ENST00000673918.2:c.6430C>T	ENSP00000501283.1:p.Leu2144Phe
ENST00000674114.2:c.4037C>T	ENSP00000501039.2:n.4037C>T
ENST00000684977.1:c.1714C>T	ENSP00000509384.1:p.Leu572Phe
ENST00000689544.1:n.1649C>T
ENST00000691421.1:c.1717C>T	ENSP00000508674.1:p.Leu573Phe
ENST00000691855.1:c.6038C>T
ENST00000692961.1:c.6496C>T	ENSP00000509289.1:p.Leu2166Phe
ENST00000693677.1:c.705-552C>T	ENSP00000509779.1:n.705-552C>T
ENST00000420124.4:c.6496C>T MANE Select	ENSP00000398837.2:p.Leu2166Phe
ENST00000673918.1:c.6430C>T	ENSP00000501283.1:p.Leu2144Phe
ENST00000674114.1:c.3818C>T
ENST00000420124.2:c.6496C>T	ENSP00000398837.1:p.Leu2166Phe
NM_014727.2:c.6496C>T	NP_055542.1:p.Leu2166Phe
XM_011527561.1:c.6430C>T	XP_011525863.1:p.Leu2144Phe
XM_011527562.1:c.6496C>T	XP_011525864.1:p.Leu2166Phe
XM_011527563.1:c.6220C>T	XP_011525865.1:p.Leu2074Phe
XM_011527561.2:c.5932C>T	XP_011525863.2:p.Leu1978Phe
XM_011527562.2:c.6496C>T	XP_011525864.1:p.Leu2166Phe
XM_017027544.1:c.6496C>T	XP_016883033.1:p.Leu2166Phe
XM_017027545.1:c.5932C>T	XP_016883034.1:p.Leu1978Phe
XM_017027546.1:c.3460C>T	XP_016883035.1:p.Leu1154Phe
NM_014727.3:c.6496C>T MANE Select	NP_055542.1:p.Leu2166Phe