Canonical Allele Identifier: CA2695228599
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732639dup , CM000681.2:g.35732639dup GRCh38
NC_000019.9:g.36223540dup , CM000681.1:g.36223540dup GRCh37
NC_000019.8:g.40915380dup NCBI36
NG_052906.1:g.19621dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.396dup
ENST00000673918.2:c.6024dup ENSP00000501283.1:p.Thr2009HisfsTer29
ENST00000674114.2:c.3631dup ENSP00000501039.2:n.3631dup
ENST00000684977.1:c.1308dup ENSP00000509384.1:p.Thr437HisfsTer29
ENST00000689544.1:n.1243dup
ENST00000691421.1:c.1311dup ENSP00000508674.1:p.Thr438HisfsTer29
ENST00000691855.1:c.5632dup
ENST00000692961.1:c.6090dup ENSP00000509289.1:p.Thr2031HisfsTer29
ENST00000693677.1:c.704+310dup ENSP00000509779.1:n.704+310dup
ENST00000420124.4:c.6090dup MANE Select ENSP00000398837.2:p.Thr2031HisfsTer29
ENST00000673918.1:c.6024dup ENSP00000501283.1:p.Thr2009HisfsTer29
ENST00000674114.1:c.3412dup
ENST00000420124.2:c.6090dup ENSP00000398837.1:p.Thr2031HisfsTer29
NM_014727.2:c.6090dup NP_055542.1:p.Thr2031HisfsTer29
XM_011527561.1:c.6024dup XP_011525863.1:p.Thr2009HisfsTer29
XM_011527562.1:c.6090dup XP_011525864.1:p.Thr2031HisfsTer29
XM_011527563.1:c.5814dup XP_011525865.1:p.Thr1939HisfsTer29
XM_011527561.2:c.5526dup XP_011525863.2:p.Thr1843HisfsTer29
XM_011527562.2:c.6090dup XP_011525864.1:p.Thr2031HisfsTer29
XM_017027544.1:c.6090dup XP_016883033.1:p.Thr2031HisfsTer29
XM_017027545.1:c.5526dup XP_016883034.1:p.Thr1843HisfsTer29
XM_017027546.1:c.3054dup XP_016883035.1:p.Thr1019HisfsTer29
NM_014727.3:c.6090dup MANE Select NP_055542.1:p.Thr2031HisfsTer29