Canonical Allele Identifier: CA2333793113
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730107T= , CM000681.2:g.35730107T= GRCh38
NC_000019.9:g.36221008T= , CM000681.1:g.36221008T= GRCh37
NC_000019.8:g.40912848T= NCBI36
NG_052906.1:g.17089T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4992T= ENSP00000501283.1:p.Thr1664=
ENST00000674114.2:c.2599T= ENSP00000501039.2:n.2599T=
ENST00000684977.1:c.276T= ENSP00000509384.1:p.Thr92=
ENST00000685168.1:c.484T=
ENST00000689544.1:n.211T=
ENST00000691421.1:c.279T= ENSP00000508674.1:p.Thr93=
ENST00000691855.1:c.4600T=
ENST00000692961.1:c.5058T= ENSP00000509289.1:p.Thr1686=
ENST00000420124.4:c.5058T= MANE Select ENSP00000398837.2:p.Thr1686=
ENST00000673918.1:c.4992T= ENSP00000501283.1:p.Thr1664=
ENST00000674114.1:c.2380T=
ENST00000420124.2:c.5058T= ENSP00000398837.1:p.Thr1686=
NM_014727.2:c.5058T= NP_055542.1:p.Thr1686=
XM_011527561.1:c.4992T= XP_011525863.1:p.Thr1664=
XM_011527562.1:c.5058T= XP_011525864.1:p.Thr1686=
XM_011527563.1:c.4782T= XP_011525865.1:p.Thr1594=
XM_011527561.2:c.4494T= XP_011525863.2:p.Thr1498=
XM_011527562.2:c.5058T= XP_011525864.1:p.Thr1686=
XM_017027544.1:c.5058T= XP_016883033.1:p.Thr1686=
XM_017027545.1:c.4494T= XP_016883034.1:p.Thr1498=
XM_017027546.1:c.2022T= XP_016883035.1:p.Thr674=
NM_014727.3:c.5058T= MANE Select NP_055542.1:p.Thr1686=