Canonical Allele Identifier: CA2576757208
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732628_35732630del , CM000681.2:g.35732628_35732630del GRCh38
NC_000019.9:g.36223529_36223531del , CM000681.1:g.36223529_36223531del GRCh37
NC_000019.8:g.40915369_40915371del NCBI36
NG_052906.1:g.19610_19612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.385_387del
ENST00000673918.2:c.6013_6015del ENSP00000501283.1:p.Glu2005del
ENST00000674114.2:c.3620_3622del ENSP00000501039.2:n.3620_3622del
ENST00000684977.1:c.1297_1299del ENSP00000509384.1:p.Glu433del
ENST00000689544.1:n.1232_1234del
ENST00000691421.1:c.1300_1302del ENSP00000508674.1:p.Glu434del
ENST00000691855.1:c.5621_5623del
ENST00000692961.1:c.6079_6081del ENSP00000509289.1:p.Glu2027del
ENST00000693677.1:c.704+299_704+301del ENSP00000509779.1:n.704+299_704+301del
ENST00000420124.4:c.6079_6081del MANE Select ENSP00000398837.2:p.Glu2027del
ENST00000673918.1:c.6013_6015del ENSP00000501283.1:p.Glu2005del
ENST00000674114.1:c.3401_3403del
ENST00000420124.2:c.6079_6081del ENSP00000398837.1:p.Glu2027del
NM_014727.2:c.6079_6081del NP_055542.1:p.Glu2027del
XM_011527561.1:c.6013_6015del XP_011525863.1:p.Glu2005del
XM_011527562.1:c.6079_6081del XP_011525864.1:p.Glu2027del
XM_011527563.1:c.5803_5805del XP_011525865.1:p.Glu1935del
XM_011527561.2:c.5515_5517del XP_011525863.2:p.Glu1839del
XM_011527562.2:c.6079_6081del XP_011525864.1:p.Glu2027del
XM_017027544.1:c.6079_6081del XP_016883033.1:p.Glu2027del
XM_017027545.1:c.5515_5517del XP_016883034.1:p.Glu1839del
XM_017027546.1:c.3043_3045del XP_016883035.1:p.Glu1015del
NM_014727.3:c.6079_6081del MANE Select NP_055542.1:p.Glu2027del