Canonical Allele Identifier: CA2333794325
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs1969743147

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732447_35732449del , CM000681.2:g.35732447_35732449del GRCh38
NC_000019.9:g.36223348_36223350del , CM000681.1:g.36223348_36223350del GRCh37
NC_000019.8:g.40915188_40915190del NCBI36
NG_052906.1:g.19429_19431del

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.204_206del
ENST00000673918.2:c.5832_5834del ENSP00000501283.1:p.Pro1945del
ENST00000674114.2:c.3439_3441del ENSP00000501039.2:n.3439_3441del
ENST00000684977.1:c.1116_1118del ENSP00000509384.1:p.Pro373del
ENST00000689544.1:n.1051_1053del
ENST00000691421.1:c.1119_1121del ENSP00000508674.1:p.Pro374del
ENST00000691855.1:c.5440_5442del
ENST00000692961.1:c.5898_5900del ENSP00000509289.1:p.Pro1967del
ENST00000693677.1:c.704+118_704+120del ENSP00000509779.1:n.704+118_704+120del
ENST00000420124.4:c.5898_5900del MANE Select ENSP00000398837.2:p.Pro1967del
ENST00000673918.1:c.5832_5834del ENSP00000501283.1:p.Pro1945del
ENST00000674114.1:c.3220_3222del
ENST00000420124.2:c.5898_5900del ENSP00000398837.1:p.Pro1967del
NM_014727.2:c.5898_5900del NP_055542.1:p.Pro1967del
XM_011527561.1:c.5832_5834del XP_011525863.1:p.Pro1945del
XM_011527562.1:c.5898_5900del XP_011525864.1:p.Pro1967del
XM_011527563.1:c.5622_5624del XP_011525865.1:p.Pro1875del
XM_011527561.2:c.5334_5336del XP_011525863.2:p.Pro1779del
XM_011527562.2:c.5898_5900del XP_011525864.1:p.Pro1967del
XM_017027544.1:c.5898_5900del XP_016883033.1:p.Pro1967del
XM_017027545.1:c.5334_5336del XP_016883034.1:p.Pro1779del
XM_017027546.1:c.2862_2864del XP_016883035.1:p.Pro955del
NM_014727.3:c.5898_5900del MANE Select NP_055542.1:p.Pro1967del