Canonical Allele Identifier: CA2841614527
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730004dup , CM000681.2:g.35730004dup GRCh38
NC_000019.9:g.36220905dup , CM000681.1:g.36220905dup GRCh37
NC_000019.8:g.40912745dup NCBI36
NG_052906.1:g.16986dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4889dup ENSP00000501283.1:p.Cys1631LeufsTer25
ENST00000674114.2:c.2496dup ENSP00000501039.2:n.2496dup
ENST00000684977.1:c.173dup ENSP00000509384.1:p.Cys59LeufsTer25
ENST00000685168.1:c.381dup
ENST00000689544.1:n.108dup
ENST00000691421.1:c.176dup ENSP00000508674.1:p.Cys60LeufsTer25
ENST00000691855.1:c.4497dup
ENST00000692961.1:c.4955dup ENSP00000509289.1:p.Cys1653LeufsTer25
ENST00000420124.4:c.4955dup MANE Select ENSP00000398837.2:p.Cys1653LeufsTer25
ENST00000673918.1:c.4889dup ENSP00000501283.1:p.Cys1631LeufsTer25
ENST00000674114.1:c.2277dup
ENST00000420124.2:c.4955dup ENSP00000398837.1:p.Cys1653LeufsTer25
NM_014727.2:c.4955dup NP_055542.1:p.Cys1653LeufsTer25
XM_011527561.1:c.4889dup XP_011525863.1:p.Cys1631LeufsTer25
XM_011527562.1:c.4955dup XP_011525864.1:p.Cys1653LeufsTer25
XM_011527563.1:c.4679dup XP_011525865.1:p.Cys1561LeufsTer25
XM_011527561.2:c.4391dup XP_011525863.2:p.Cys1465LeufsTer25
XM_011527562.2:c.4955dup XP_011525864.1:p.Cys1653LeufsTer25
XM_017027544.1:c.4955dup XP_016883033.1:p.Cys1653LeufsTer25
XM_017027545.1:c.4391dup XP_016883034.1:p.Cys1465LeufsTer25
XM_017027546.1:c.1919dup XP_016883035.1:p.Cys641LeufsTer25
NM_014727.3:c.4955dup MANE Select NP_055542.1:p.Cys1653LeufsTer25