Canonical Allele Identifier: CA405428719
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733022A>T , CM000681.2:g.35733022A>T GRCh38
NC_000019.9:g.36223923A>T , CM000681.1:g.36223923A>T GRCh37
NC_000019.8:g.40915763A>T NCBI36
NG_052906.1:g.20004A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.779A>T
ENST00000673918.2:c.6407A>T ENSP00000501283.1:p.Asp2136Val
ENST00000674114.2:c.4014A>T ENSP00000501039.2:n.4014A>T
ENST00000684977.1:c.1691A>T ENSP00000509384.1:p.Asp564Val
ENST00000689544.1:n.1626A>T
ENST00000691421.1:c.1694A>T ENSP00000508674.1:p.Asp565Val
ENST00000691855.1:c.6015A>T
ENST00000692961.1:c.6473A>T ENSP00000509289.1:p.Asp2158Val
ENST00000693677.1:c.705-575A>T ENSP00000509779.1:n.705-575A>T
ENST00000420124.4:c.6473A>T MANE Select ENSP00000398837.2:p.Asp2158Val
ENST00000673918.1:c.6407A>T ENSP00000501283.1:p.Asp2136Val
ENST00000674114.1:c.3795A>T
ENST00000420124.2:c.6473A>T ENSP00000398837.1:p.Asp2158Val
NM_014727.2:c.6473A>T NP_055542.1:p.Asp2158Val
XM_011527561.1:c.6407A>T XP_011525863.1:p.Asp2136Val
XM_011527562.1:c.6473A>T XP_011525864.1:p.Asp2158Val
XM_011527563.1:c.6197A>T XP_011525865.1:p.Asp2066Val
XM_011527561.2:c.5909A>T XP_011525863.2:p.Asp1970Val
XM_011527562.2:c.6473A>T XP_011525864.1:p.Asp2158Val
XM_017027544.1:c.6473A>T XP_016883033.1:p.Asp2158Val
XM_017027545.1:c.5909A>T XP_016883034.1:p.Asp1970Val
XM_017027546.1:c.3437A>T XP_016883035.1:p.Asp1146Val
NM_014727.3:c.6473A>T MANE Select NP_055542.1:p.Asp2158Val