Canonical Allele Identifier: CA405425511
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732616A>C , CM000681.2:g.35732616A>C GRCh38
NC_000019.9:g.36223517A>C , CM000681.1:g.36223517A>C GRCh37
NC_000019.8:g.40915357A>C NCBI36
NG_052906.1:g.19598A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.373A>C
ENST00000673918.2:c.6001A>C ENSP00000501283.1:p.Ser2001Arg
ENST00000674114.2:c.3608A>C ENSP00000501039.2:n.3608A>C
ENST00000684977.1:c.1285A>C ENSP00000509384.1:p.Ser429Arg
ENST00000689544.1:n.1220A>C
ENST00000691421.1:c.1288A>C ENSP00000508674.1:p.Ser430Arg
ENST00000691855.1:c.5609A>C
ENST00000692961.1:c.6067A>C ENSP00000509289.1:p.Ser2023Arg
ENST00000693677.1:c.704+287A>C ENSP00000509779.1:n.704+287A>C
ENST00000420124.4:c.6067A>C MANE Select ENSP00000398837.2:p.Ser2023Arg
ENST00000673918.1:c.6001A>C ENSP00000501283.1:p.Ser2001Arg
ENST00000674114.1:c.3389A>C
ENST00000420124.2:c.6067A>C ENSP00000398837.1:p.Ser2023Arg
NM_014727.2:c.6067A>C NP_055542.1:p.Ser2023Arg
XM_011527561.1:c.6001A>C XP_011525863.1:p.Ser2001Arg
XM_011527562.1:c.6067A>C XP_011525864.1:p.Ser2023Arg
XM_011527563.1:c.5791A>C XP_011525865.1:p.Ser1931Arg
XM_011527561.2:c.5503A>C XP_011525863.2:p.Ser1835Arg
XM_011527562.2:c.6067A>C XP_011525864.1:p.Ser2023Arg
XM_017027544.1:c.6067A>C XP_016883033.1:p.Ser2023Arg
XM_017027545.1:c.5503A>C XP_016883034.1:p.Ser1835Arg
XM_017027546.1:c.3031A>C XP_016883035.1:p.Ser1011Arg
NM_014727.3:c.6067A>C MANE Select NP_055542.1:p.Ser2023Arg