Canonical Allele Identifier: CA405424378
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732436C>A , CM000681.2:g.35732436C>A GRCh38
NC_000019.9:g.36223337C>A , CM000681.1:g.36223337C>A GRCh37
NC_000019.8:g.40915177C>A NCBI36
NG_052906.1:g.19418C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.193C>A
ENST00000673918.2:c.5821C>A ENSP00000501283.1:p.Pro1941Thr
ENST00000674114.2:c.3428C>A ENSP00000501039.2:n.3428C>A
ENST00000684977.1:c.1105C>A ENSP00000509384.1:p.Pro369Thr
ENST00000689544.1:n.1040C>A
ENST00000691421.1:c.1108C>A ENSP00000508674.1:p.Pro370Thr
ENST00000691855.1:c.5429C>A
ENST00000692961.1:c.5887C>A ENSP00000509289.1:p.Pro1963Thr
ENST00000693677.1:c.704+107C>A ENSP00000509779.1:n.704+107C>A
ENST00000420124.4:c.5887C>A MANE Select ENSP00000398837.2:p.Pro1963Thr
ENST00000673918.1:c.5821C>A ENSP00000501283.1:p.Pro1941Thr
ENST00000674114.1:c.3209C>A
ENST00000420124.2:c.5887C>A ENSP00000398837.1:p.Pro1963Thr
NM_014727.2:c.5887C>A NP_055542.1:p.Pro1963Thr
XM_011527561.1:c.5821C>A XP_011525863.1:p.Pro1941Thr
XM_011527562.1:c.5887C>A XP_011525864.1:p.Pro1963Thr
XM_011527563.1:c.5611C>A XP_011525865.1:p.Pro1871Thr
XM_011527561.2:c.5323C>A XP_011525863.2:p.Pro1775Thr
XM_011527562.2:c.5887C>A XP_011525864.1:p.Pro1963Thr
XM_017027544.1:c.5887C>A XP_016883033.1:p.Pro1963Thr
XM_017027545.1:c.5323C>A XP_016883034.1:p.Pro1775Thr
XM_017027546.1:c.2851C>A XP_016883035.1:p.Pro951Thr
NM_014727.3:c.5887C>A MANE Select NP_055542.1:p.Pro1963Thr