Canonical Allele Identifier: CA405424798
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732508A>T , CM000681.2:g.35732508A>T GRCh38
NC_000019.9:g.36223409A>T , CM000681.1:g.36223409A>T GRCh37
NC_000019.8:g.40915249A>T NCBI36
NG_052906.1:g.19490A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.265A>T
ENST00000673918.2:c.5893A>T ENSP00000501283.1:p.Ser1965Cys
ENST00000674114.2:c.3500A>T ENSP00000501039.2:n.3500A>T
ENST00000684977.1:c.1177A>T ENSP00000509384.1:p.Ser393Cys
ENST00000689544.1:n.1112A>T
ENST00000691421.1:c.1180A>T ENSP00000508674.1:p.Ser394Cys
ENST00000691855.1:c.5501A>T
ENST00000692961.1:c.5959A>T ENSP00000509289.1:p.Ser1987Cys
ENST00000693677.1:c.704+179A>T ENSP00000509779.1:n.704+179A>T
ENST00000420124.4:c.5959A>T MANE Select ENSP00000398837.2:p.Ser1987Cys
ENST00000673918.1:c.5893A>T ENSP00000501283.1:p.Ser1965Cys
ENST00000674114.1:c.3281A>T
ENST00000420124.2:c.5959A>T ENSP00000398837.1:p.Ser1987Cys
NM_014727.2:c.5959A>T NP_055542.1:p.Ser1987Cys
XM_011527561.1:c.5893A>T XP_011525863.1:p.Ser1965Cys
XM_011527562.1:c.5959A>T XP_011525864.1:p.Ser1987Cys
XM_011527563.1:c.5683A>T XP_011525865.1:p.Ser1895Cys
XM_011527561.2:c.5395A>T XP_011525863.2:p.Ser1799Cys
XM_011527562.2:c.5959A>T XP_011525864.1:p.Ser1987Cys
XM_017027544.1:c.5959A>T XP_016883033.1:p.Ser1987Cys
XM_017027545.1:c.5395A>T XP_016883034.1:p.Ser1799Cys
XM_017027546.1:c.2923A>T XP_016883035.1:p.Ser975Cys
NM_014727.3:c.5959A>T MANE Select NP_055542.1:p.Ser1987Cys