Canonical Allele Identifier: CA405425082
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732550G>C , CM000681.2:g.35732550G>C GRCh38
NC_000019.9:g.36223451G>C , CM000681.1:g.36223451G>C GRCh37
NC_000019.8:g.40915291G>C NCBI36
NG_052906.1:g.19532G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.307G>C
ENST00000673918.2:c.5935G>C ENSP00000501283.1:p.Glu1979Gln
ENST00000674114.2:c.3542G>C ENSP00000501039.2:n.3542G>C
ENST00000684977.1:c.1219G>C ENSP00000509384.1:p.Glu407Gln
ENST00000689544.1:n.1154G>C
ENST00000691421.1:c.1222G>C ENSP00000508674.1:p.Glu408Gln
ENST00000691855.1:c.5543G>C
ENST00000692961.1:c.6001G>C ENSP00000509289.1:p.Glu2001Gln
ENST00000693677.1:c.704+221G>C ENSP00000509779.1:n.704+221G>C
ENST00000420124.4:c.6001G>C MANE Select ENSP00000398837.2:p.Glu2001Gln
ENST00000673918.1:c.5935G>C ENSP00000501283.1:p.Glu1979Gln
ENST00000674114.1:c.3323G>C
ENST00000420124.2:c.6001G>C ENSP00000398837.1:p.Glu2001Gln
NM_014727.2:c.6001G>C NP_055542.1:p.Glu2001Gln
XM_011527561.1:c.5935G>C XP_011525863.1:p.Glu1979Gln
XM_011527562.1:c.6001G>C XP_011525864.1:p.Glu2001Gln
XM_011527563.1:c.5725G>C XP_011525865.1:p.Glu1909Gln
XM_011527561.2:c.5437G>C XP_011525863.2:p.Glu1813Gln
XM_011527562.2:c.6001G>C XP_011525864.1:p.Glu2001Gln
XM_017027544.1:c.6001G>C XP_016883033.1:p.Glu2001Gln
XM_017027545.1:c.5437G>C XP_016883034.1:p.Glu1813Gln
XM_017027546.1:c.2965G>C XP_016883035.1:p.Glu989Gln
NM_014727.3:c.6001G>C MANE Select NP_055542.1:p.Glu2001Gln