Canonical Allele Identifier: CA405427966
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732899T>A , CM000681.2:g.35732899T>A GRCh38
NC_000019.9:g.36223800T>A , CM000681.1:g.36223800T>A GRCh37
NC_000019.8:g.40915640T>A NCBI36
NG_052906.1:g.19881T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.656T>A
ENST00000673918.2:c.6284T>A ENSP00000501283.1:p.Val2095Glu
ENST00000674114.2:c.3891T>A ENSP00000501039.2:n.3891T>A
ENST00000684977.1:c.1568T>A ENSP00000509384.1:p.Val523Glu
ENST00000689544.1:n.1503T>A
ENST00000691421.1:c.1571T>A ENSP00000508674.1:p.Val524Glu
ENST00000691855.1:c.5892T>A
ENST00000692961.1:c.6350T>A ENSP00000509289.1:p.Val2117Glu
ENST00000693677.1:c.704+570T>A ENSP00000509779.1:n.704+570T>A
ENST00000420124.4:c.6350T>A MANE Select ENSP00000398837.2:p.Val2117Glu
ENST00000673918.1:c.6284T>A ENSP00000501283.1:p.Val2095Glu
ENST00000674114.1:c.3672T>A
ENST00000420124.2:c.6350T>A ENSP00000398837.1:p.Val2117Glu
NM_014727.2:c.6350T>A NP_055542.1:p.Val2117Glu
XM_011527561.1:c.6284T>A XP_011525863.1:p.Val2095Glu
XM_011527562.1:c.6350T>A XP_011525864.1:p.Val2117Glu
XM_011527563.1:c.6074T>A XP_011525865.1:p.Val2025Glu
XM_011527561.2:c.5786T>A XP_011525863.2:p.Val1929Glu
XM_011527562.2:c.6350T>A XP_011525864.1:p.Val2117Glu
XM_017027544.1:c.6350T>A XP_016883033.1:p.Val2117Glu
XM_017027545.1:c.5786T>A XP_016883034.1:p.Val1929Glu
XM_017027546.1:c.3314T>A XP_016883035.1:p.Val1105Glu
NM_014727.3:c.6350T>A MANE Select NP_055542.1:p.Val2117Glu