Canonical Allele Identifier: CA405419256
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730085A>G , CM000681.2:g.35730085A>G GRCh38
NC_000019.9:g.36220986A>G , CM000681.1:g.36220986A>G GRCh37
NC_000019.8:g.40912826A>G NCBI36
NG_052906.1:g.17067A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4970A>G ENSP00000501283.1:p.Lys1657Arg
ENST00000674114.2:c.2577A>G ENSP00000501039.2:n.2577A>G
ENST00000684977.1:c.254A>G ENSP00000509384.1:p.Lys85Arg
ENST00000685168.1:c.462A>G
ENST00000689544.1:n.189A>G
ENST00000691421.1:c.257A>G ENSP00000508674.1:p.Lys86Arg
ENST00000691855.1:c.4578A>G
ENST00000692961.1:c.5036A>G ENSP00000509289.1:p.Lys1679Arg
ENST00000420124.4:c.5036A>G MANE Select ENSP00000398837.2:p.Lys1679Arg
ENST00000673918.1:c.4970A>G ENSP00000501283.1:p.Lys1657Arg
ENST00000674114.1:c.2358A>G
ENST00000420124.2:c.5036A>G ENSP00000398837.1:p.Lys1679Arg
NM_014727.2:c.5036A>G NP_055542.1:p.Lys1679Arg
XM_011527561.1:c.4970A>G XP_011525863.1:p.Lys1657Arg
XM_011527562.1:c.5036A>G XP_011525864.1:p.Lys1679Arg
XM_011527563.1:c.4760A>G XP_011525865.1:p.Lys1587Arg
XM_011527561.2:c.4472A>G XP_011525863.2:p.Lys1491Arg
XM_011527562.2:c.5036A>G XP_011525864.1:p.Lys1679Arg
XM_017027544.1:c.5036A>G XP_016883033.1:p.Lys1679Arg
XM_017027545.1:c.4472A>G XP_016883034.1:p.Lys1491Arg
XM_017027546.1:c.2000A>G XP_016883035.1:p.Lys667Arg
NM_014727.3:c.5036A>G MANE Select NP_055542.1:p.Lys1679Arg