Canonical Allele Identifier: CA405419254
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4970A>C ENSP00000501283.1:p.Lys1657Thr
ENST00000674114.2:c.2577A>C ENSP00000501039.2:n.2577A>C
ENST00000684977.1:c.254A>C ENSP00000509384.1:p.Lys85Thr
ENST00000685168.1:c.462A>C
ENST00000689544.1:n.189A>C
ENST00000691421.1:c.257A>C ENSP00000508674.1:p.Lys86Thr
ENST00000691855.1:c.4578A>C
ENST00000692961.1:c.5036A>C ENSP00000509289.1:p.Lys1679Thr
ENST00000420124.4:c.5036A>C MANE Select ENSP00000398837.2:p.Lys1679Thr
ENST00000673918.1:c.4970A>C ENSP00000501283.1:p.Lys1657Thr
ENST00000674114.1:c.2358A>C
ENST00000420124.2:c.5036A>C ENSP00000398837.1:p.Lys1679Thr
NM_014727.2:c.5036A>C NP_055542.1:p.Lys1679Thr
XM_011527561.1:c.4970A>C XP_011525863.1:p.Lys1657Thr
XM_011527562.1:c.5036A>C XP_011525864.1:p.Lys1679Thr
XM_011527563.1:c.4760A>C XP_011525865.1:p.Lys1587Thr
XM_011527561.2:c.4472A>C XP_011525863.2:p.Lys1491Thr
XM_011527562.2:c.5036A>C XP_011525864.1:p.Lys1679Thr
XM_017027544.1:c.5036A>C XP_016883033.1:p.Lys1679Thr
XM_017027545.1:c.4472A>C XP_016883034.1:p.Lys1491Thr
XM_017027546.1:c.2000A>C XP_016883035.1:p.Lys667Thr
NM_014727.3:c.5036A>C MANE Select NP_055542.1:p.Lys1679Thr