Canonical Allele Identifier: CA405429359
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733127T>G , CM000681.2:g.35733127T>G GRCh38
NC_000019.9:g.36224028T>G , CM000681.1:g.36224028T>G GRCh37
NC_000019.8:g.40915868T>G NCBI36
NG_052906.1:g.20109T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.884T>G
ENST00000673918.2:c.6512T>G ENSP00000501283.1:p.Leu2171Arg
ENST00000674114.2:c.4119T>G ENSP00000501039.2:n.4119T>G
ENST00000684977.1:c.1796T>G ENSP00000509384.1:p.Leu599Arg
ENST00000689544.1:n.1731T>G
ENST00000691421.1:c.1799T>G ENSP00000508674.1:p.Leu600Arg
ENST00000691855.1:c.6120T>G
ENST00000692961.1:c.6578T>G ENSP00000509289.1:p.Leu2193Arg
ENST00000693677.1:c.705-470T>G ENSP00000509779.1:n.705-470T>G
ENST00000420124.4:c.6578T>G MANE Select ENSP00000398837.2:p.Leu2193Arg
ENST00000673918.1:c.6512T>G ENSP00000501283.1:p.Leu2171Arg
ENST00000674114.1:c.3900T>G
ENST00000420124.2:c.6578T>G ENSP00000398837.1:p.Leu2193Arg
NM_014727.2:c.6578T>G NP_055542.1:p.Leu2193Arg
XM_011527561.1:c.6512T>G XP_011525863.1:p.Leu2171Arg
XM_011527562.1:c.6578T>G XP_011525864.1:p.Leu2193Arg
XM_011527563.1:c.6302T>G XP_011525865.1:p.Leu2101Arg
XM_011527561.2:c.6014T>G XP_011525863.2:p.Leu2005Arg
XM_011527562.2:c.6578T>G XP_011525864.1:p.Leu2193Arg
XM_017027544.1:c.6578T>G XP_016883033.1:p.Leu2193Arg
XM_017027545.1:c.6014T>G XP_016883034.1:p.Leu2005Arg
XM_017027546.1:c.3542T>G XP_016883035.1:p.Leu1181Arg
NM_014727.3:c.6578T>G MANE Select NP_055542.1:p.Leu2193Arg