Canonical Allele Identifier: CA405427337

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732803-C-A
• MyVariant Identifiers: chr19:g.36223704C>A (hg19) ; chr19:g.35732803C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732803C>A , CM000681.2:g.35732803C>A	GRCh38
NC_000019.9:g.36223704C>A , CM000681.1:g.36223704C>A	GRCh37
NC_000019.8:g.40915544C>A	NCBI36
NG_052906.1:g.19785C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.560C>A
ENST00000673918.2:c.6188C>A	ENSP00000501283.1:p.Pro2063His
ENST00000674114.2:c.3795C>A	ENSP00000501039.2:n.3795C>A
ENST00000684977.1:c.1472C>A	ENSP00000509384.1:p.Pro491His
ENST00000689544.1:n.1407C>A
ENST00000691421.1:c.1475C>A	ENSP00000508674.1:p.Pro492His
ENST00000691855.1:c.5796C>A
ENST00000692961.1:c.6254C>A	ENSP00000509289.1:p.Pro2085His
ENST00000693677.1:c.704+474C>A	ENSP00000509779.1:n.704+474C>A
ENST00000420124.4:c.6254C>A MANE Select	ENSP00000398837.2:p.Pro2085His
ENST00000673918.1:c.6188C>A	ENSP00000501283.1:p.Pro2063His
ENST00000674114.1:c.3576C>A
ENST00000420124.2:c.6254C>A	ENSP00000398837.1:p.Pro2085His
NM_014727.2:c.6254C>A	NP_055542.1:p.Pro2085His
XM_011527561.1:c.6188C>A	XP_011525863.1:p.Pro2063His
XM_011527562.1:c.6254C>A	XP_011525864.1:p.Pro2085His
XM_011527563.1:c.5978C>A	XP_011525865.1:p.Pro1993His
XM_011527561.2:c.5690C>A	XP_011525863.2:p.Pro1897His
XM_011527562.2:c.6254C>A	XP_011525864.1:p.Pro2085His
XM_017027544.1:c.6254C>A	XP_016883033.1:p.Pro2085His
XM_017027545.1:c.5690C>A	XP_016883034.1:p.Pro1897His
XM_017027546.1:c.3218C>A	XP_016883035.1:p.Pro1073His
NM_014727.3:c.6254C>A MANE Select	NP_055542.1:p.Pro2085His