Canonical Allele Identifier: CA405425154

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732558-C-G
• MyVariant Identifiers: chr19:g.36223459C>G (hg19) ; chr19:g.35732558C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732558C>G , CM000681.2:g.35732558C>G	GRCh38
NC_000019.9:g.36223459C>G , CM000681.1:g.36223459C>G	GRCh37
NC_000019.8:g.40915299C>G	NCBI36
NG_052906.1:g.19540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.315C>G
ENST00000673918.2:c.5943C>G	ENSP00000501283.1:p.Phe1981Leu
ENST00000674114.2:c.3550C>G	ENSP00000501039.2:n.3550C>G
ENST00000684977.1:c.1227C>G	ENSP00000509384.1:p.Phe409Leu
ENST00000689544.1:n.1162C>G
ENST00000691421.1:c.1230C>G	ENSP00000508674.1:p.Phe410Leu
ENST00000691855.1:c.5551C>G
ENST00000692961.1:c.6009C>G	ENSP00000509289.1:p.Phe2003Leu
ENST00000693677.1:c.704+229C>G	ENSP00000509779.1:n.704+229C>G
ENST00000420124.4:c.6009C>G MANE Select	ENSP00000398837.2:p.Phe2003Leu
ENST00000673918.1:c.5943C>G	ENSP00000501283.1:p.Phe1981Leu
ENST00000674114.1:c.3331C>G
ENST00000420124.2:c.6009C>G	ENSP00000398837.1:p.Phe2003Leu
NM_014727.2:c.6009C>G	NP_055542.1:p.Phe2003Leu
XM_011527561.1:c.5943C>G	XP_011525863.1:p.Phe1981Leu
XM_011527562.1:c.6009C>G	XP_011525864.1:p.Phe2003Leu
XM_011527563.1:c.5733C>G	XP_011525865.1:p.Phe1911Leu
XM_011527561.2:c.5445C>G	XP_011525863.2:p.Phe1815Leu
XM_011527562.2:c.6009C>G	XP_011525864.1:p.Phe2003Leu
XM_017027544.1:c.6009C>G	XP_016883033.1:p.Phe2003Leu
XM_017027545.1:c.5445C>G	XP_016883034.1:p.Phe1815Leu
XM_017027546.1:c.2973C>G	XP_016883035.1:p.Phe991Leu
NM_014727.3:c.6009C>G MANE Select	NP_055542.1:p.Phe2003Leu