Canonical Allele Identifier: CA405425280
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732574G>A , CM000681.2:g.35732574G>A GRCh38
NC_000019.9:g.36223475G>A , CM000681.1:g.36223475G>A GRCh37
NC_000019.8:g.40915315G>A NCBI36
NG_052906.1:g.19556G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.331G>A
ENST00000673918.2:c.5959G>A ENSP00000501283.1:p.Ala1987Thr
ENST00000674114.2:c.3566G>A ENSP00000501039.2:n.3566G>A
ENST00000684977.1:c.1243G>A ENSP00000509384.1:p.Ala415Thr
ENST00000689544.1:n.1178G>A
ENST00000691421.1:c.1246G>A ENSP00000508674.1:p.Ala416Thr
ENST00000691855.1:c.5567G>A
ENST00000692961.1:c.6025G>A ENSP00000509289.1:p.Ala2009Thr
ENST00000693677.1:c.704+245G>A ENSP00000509779.1:n.704+245G>A
ENST00000420124.4:c.6025G>A MANE Select ENSP00000398837.2:p.Ala2009Thr
ENST00000673918.1:c.5959G>A ENSP00000501283.1:p.Ala1987Thr
ENST00000674114.1:c.3347G>A
ENST00000420124.2:c.6025G>A ENSP00000398837.1:p.Ala2009Thr
NM_014727.2:c.6025G>A NP_055542.1:p.Ala2009Thr
XM_011527561.1:c.5959G>A XP_011525863.1:p.Ala1987Thr
XM_011527562.1:c.6025G>A XP_011525864.1:p.Ala2009Thr
XM_011527563.1:c.5749G>A XP_011525865.1:p.Ala1917Thr
XM_011527561.2:c.5461G>A XP_011525863.2:p.Ala1821Thr
XM_011527562.2:c.6025G>A XP_011525864.1:p.Ala2009Thr
XM_017027544.1:c.6025G>A XP_016883033.1:p.Ala2009Thr
XM_017027545.1:c.5461G>A XP_016883034.1:p.Ala1821Thr
XM_017027546.1:c.2989G>A XP_016883035.1:p.Ala997Thr
NM_014727.3:c.6025G>A MANE Select NP_055542.1:p.Ala2009Thr