Canonical Allele Identifier: CA2576757217
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732779_35732781del , CM000681.2:g.35732779_35732781del GRCh38
NC_000019.9:g.36223680_36223682del , CM000681.1:g.36223680_36223682del GRCh37
NC_000019.8:g.40915520_40915522del NCBI36
NG_052906.1:g.19761_19763del

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.536_538del
ENST00000673918.2:c.6164_6166del ENSP00000501283.1:p.Gln2055del
ENST00000674114.2:c.3771_3773del ENSP00000501039.2:n.3771_3773del
ENST00000684977.1:c.1448_1450del ENSP00000509384.1:p.Gln483del
ENST00000689544.1:n.1383_1385del
ENST00000691421.1:c.1451_1453del ENSP00000508674.1:p.Gln484del
ENST00000691855.1:c.5772_5774del
ENST00000692961.1:c.6230_6232del ENSP00000509289.1:p.Gln2077del
ENST00000693677.1:c.704+450_704+452del ENSP00000509779.1:n.704+450_704+452del
ENST00000420124.4:c.6230_6232del MANE Select ENSP00000398837.2:p.Gln2077del
ENST00000673918.1:c.6164_6166del ENSP00000501283.1:p.Gln2055del
ENST00000674114.1:c.3552_3554del
ENST00000420124.2:c.6230_6232del ENSP00000398837.1:p.Gln2077del
NM_014727.2:c.6230_6232del NP_055542.1:p.Gln2077del
XM_011527561.1:c.6164_6166del XP_011525863.1:p.Gln2055del
XM_011527562.1:c.6230_6232del XP_011525864.1:p.Gln2077del
XM_011527563.1:c.5954_5956del XP_011525865.1:p.Gln1985del
XM_011527561.2:c.5666_5668del XP_011525863.2:p.Gln1889del
XM_011527562.2:c.6230_6232del XP_011525864.1:p.Gln2077del
XM_017027544.1:c.6230_6232del XP_016883033.1:p.Gln2077del
XM_017027545.1:c.5666_5668del XP_016883034.1:p.Gln1889del
XM_017027546.1:c.3194_3196del XP_016883035.1:p.Gln1065del
NM_014727.3:c.6230_6232del MANE Select NP_055542.1:p.Gln2077del