Canonical Allele Identifier: CA405425205
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732565G>T , CM000681.2:g.35732565G>T GRCh38
NC_000019.9:g.36223466G>T , CM000681.1:g.36223466G>T GRCh37
NC_000019.8:g.40915306G>T NCBI36
NG_052906.1:g.19547G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.322G>T
ENST00000673918.2:c.5950G>T ENSP00000501283.1:p.Glu1984Ter
ENST00000674114.2:c.3557G>T ENSP00000501039.2:n.3557G>T
ENST00000684977.1:c.1234G>T ENSP00000509384.1:p.Glu412Ter
ENST00000689544.1:n.1169G>T
ENST00000691421.1:c.1237G>T ENSP00000508674.1:p.Glu413Ter
ENST00000691855.1:c.5558G>T
ENST00000692961.1:c.6016G>T ENSP00000509289.1:p.Glu2006Ter
ENST00000693677.1:c.704+236G>T ENSP00000509779.1:n.704+236G>T
ENST00000420124.4:c.6016G>T MANE Select ENSP00000398837.2:p.Glu2006Ter
ENST00000673918.1:c.5950G>T ENSP00000501283.1:p.Glu1984Ter
ENST00000674114.1:c.3338G>T
ENST00000420124.2:c.6016G>T ENSP00000398837.1:p.Glu2006Ter
NM_014727.2:c.6016G>T NP_055542.1:p.Glu2006Ter
XM_011527561.1:c.5950G>T XP_011525863.1:p.Glu1984Ter
XM_011527562.1:c.6016G>T XP_011525864.1:p.Glu2006Ter
XM_011527563.1:c.5740G>T XP_011525865.1:p.Glu1914Ter
XM_011527561.2:c.5452G>T XP_011525863.2:p.Glu1818Ter
XM_011527562.2:c.6016G>T XP_011525864.1:p.Glu2006Ter
XM_017027544.1:c.6016G>T XP_016883033.1:p.Glu2006Ter
XM_017027545.1:c.5452G>T XP_016883034.1:p.Glu1818Ter
XM_017027546.1:c.2980G>T XP_016883035.1:p.Glu994Ter
NM_014727.3:c.6016G>T MANE Select NP_055542.1:p.Glu2006Ter