Canonical Allele Identifier: CA2576757229
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733154_35733155del , CM000681.2:g.35733154_35733155del GRCh38
NC_000019.9:g.36224055_36224056del , CM000681.1:g.36224055_36224056del GRCh37
NC_000019.8:g.40915895_40915896del NCBI36
NG_052906.1:g.20136_20137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.911_912del
ENST00000673918.2:c.6539_6540del ENSP00000501283.1:p.Val2180GlufsTer7
ENST00000674114.2:c.4146_4147del ENSP00000501039.2:n.4146_4147del
ENST00000684977.1:c.1823_1824del ENSP00000509384.1:p.Val608GlufsTer7
ENST00000689544.1:n.1758_1759del
ENST00000691421.1:c.1826_1827del ENSP00000508674.1:p.Val609GlufsTer7
ENST00000691855.1:c.6147_6148del
ENST00000692961.1:c.6605_6606del ENSP00000509289.1:p.Val2202GlufsTer7
ENST00000693677.1:c.705-443_705-442del ENSP00000509779.1:n.705-443_705-442del
ENST00000420124.4:c.6605_6606del MANE Select ENSP00000398837.2:p.Val2202GlufsTer7
ENST00000673918.1:c.6539_6540del ENSP00000501283.1:p.Val2180GlufsTer7
ENST00000674114.1:c.3927_3928del
ENST00000420124.2:c.6605_6606del ENSP00000398837.1:p.Val2202GlufsTer7
NM_014727.2:c.6605_6606del NP_055542.1:p.Val2202GlufsTer7
XM_011527561.1:c.6539_6540del XP_011525863.1:p.Val2180GlufsTer7
XM_011527562.1:c.6605_6606del XP_011525864.1:p.Val2202GlufsTer7
XM_011527563.1:c.6329_6330del XP_011525865.1:p.Val2110GlufsTer7
XM_011527561.2:c.6041_6042del XP_011525863.2:p.Val2014GlufsTer7
XM_011527562.2:c.6605_6606del XP_011525864.1:p.Val2202GlufsTer7
XM_017027544.1:c.6605_6606del XP_016883033.1:p.Val2202GlufsTer7
XM_017027545.1:c.6041_6042del XP_016883034.1:p.Val2014GlufsTer7
XM_017027546.1:c.3569_3570del XP_016883035.1:p.Val1190GlufsTer7
NM_014727.3:c.6605_6606del MANE Select NP_055542.1:p.Val2202GlufsTer7