Canonical Allele Identifier: CA405425042

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223443T>A (hg19) ; chr19:g.35732542T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732542T>A , CM000681.2:g.35732542T>A	GRCh38
NC_000019.9:g.36223443T>A , CM000681.1:g.36223443T>A	GRCh37
NC_000019.8:g.40915283T>A	NCBI36
NG_052906.1:g.19524T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.299T>A
ENST00000673918.2:c.5927T>A	ENSP00000501283.1:p.Leu1976Gln
ENST00000674114.2:c.3534T>A	ENSP00000501039.2:n.3534T>A
ENST00000684977.1:c.1211T>A	ENSP00000509384.1:p.Leu404Gln
ENST00000689544.1:n.1146T>A
ENST00000691421.1:c.1214T>A	ENSP00000508674.1:p.Leu405Gln
ENST00000691855.1:c.5535T>A
ENST00000692961.1:c.5993T>A	ENSP00000509289.1:p.Leu1998Gln
ENST00000693677.1:c.704+213T>A	ENSP00000509779.1:n.704+213T>A
ENST00000420124.4:c.5993T>A MANE Select	ENSP00000398837.2:p.Leu1998Gln
ENST00000673918.1:c.5927T>A	ENSP00000501283.1:p.Leu1976Gln
ENST00000674114.1:c.3315T>A
ENST00000420124.2:c.5993T>A	ENSP00000398837.1:p.Leu1998Gln
NM_014727.2:c.5993T>A	NP_055542.1:p.Leu1998Gln
XM_011527561.1:c.5927T>A	XP_011525863.1:p.Leu1976Gln
XM_011527562.1:c.5993T>A	XP_011525864.1:p.Leu1998Gln
XM_011527563.1:c.5717T>A	XP_011525865.1:p.Leu1906Gln
XM_011527561.2:c.5429T>A	XP_011525863.2:p.Leu1810Gln
XM_011527562.2:c.5993T>A	XP_011525864.1:p.Leu1998Gln
XM_017027544.1:c.5993T>A	XP_016883033.1:p.Leu1998Gln
XM_017027545.1:c.5429T>A	XP_016883034.1:p.Leu1810Gln
XM_017027546.1:c.2957T>A	XP_016883035.1:p.Leu986Gln
NM_014727.3:c.5993T>A MANE Select	NP_055542.1:p.Leu1998Gln