Canonical Allele Identifier: CA405427541
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732836T>G , CM000681.2:g.35732836T>G GRCh38
NC_000019.9:g.36223737T>G , CM000681.1:g.36223737T>G GRCh37
NC_000019.8:g.40915577T>G NCBI36
NG_052906.1:g.19818T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.593T>G
ENST00000673918.2:c.6221T>G ENSP00000501283.1:p.Leu2074Arg
ENST00000674114.2:c.3828T>G ENSP00000501039.2:n.3828T>G
ENST00000684977.1:c.1505T>G ENSP00000509384.1:p.Leu502Arg
ENST00000689544.1:n.1440T>G
ENST00000691421.1:c.1508T>G ENSP00000508674.1:p.Leu503Arg
ENST00000691855.1:c.5829T>G
ENST00000692961.1:c.6287T>G ENSP00000509289.1:p.Leu2096Arg
ENST00000693677.1:c.704+507T>G ENSP00000509779.1:n.704+507T>G
ENST00000420124.4:c.6287T>G MANE Select ENSP00000398837.2:p.Leu2096Arg
ENST00000673918.1:c.6221T>G ENSP00000501283.1:p.Leu2074Arg
ENST00000674114.1:c.3609T>G
ENST00000420124.2:c.6287T>G ENSP00000398837.1:p.Leu2096Arg
NM_014727.2:c.6287T>G NP_055542.1:p.Leu2096Arg
XM_011527561.1:c.6221T>G XP_011525863.1:p.Leu2074Arg
XM_011527562.1:c.6287T>G XP_011525864.1:p.Leu2096Arg
XM_011527563.1:c.6011T>G XP_011525865.1:p.Leu2004Arg
XM_011527561.2:c.5723T>G XP_011525863.2:p.Leu1908Arg
XM_011527562.2:c.6287T>G XP_011525864.1:p.Leu2096Arg
XM_017027544.1:c.6287T>G XP_016883033.1:p.Leu2096Arg
XM_017027545.1:c.5723T>G XP_016883034.1:p.Leu1908Arg
XM_017027546.1:c.3251T>G XP_016883035.1:p.Leu1084Arg
NM_014727.3:c.6287T>G MANE Select NP_055542.1:p.Leu2096Arg