Canonical Allele Identifier: CA405424367
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732433G>T , CM000681.2:g.35732433G>T GRCh38
NC_000019.9:g.36223334G>T , CM000681.1:g.36223334G>T GRCh37
NC_000019.8:g.40915174G>T NCBI36
NG_052906.1:g.19415G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.190G>T
ENST00000673918.2:c.5818G>T ENSP00000501283.1:p.Gly1940Cys
ENST00000674114.2:c.3425G>T ENSP00000501039.2:n.3425G>T
ENST00000684977.1:c.1102G>T ENSP00000509384.1:p.Gly368Cys
ENST00000689544.1:n.1037G>T
ENST00000691421.1:c.1105G>T ENSP00000508674.1:p.Gly369Cys
ENST00000691855.1:c.5426G>T
ENST00000692961.1:c.5884G>T ENSP00000509289.1:p.Gly1962Cys
ENST00000693677.1:c.704+104G>T ENSP00000509779.1:n.704+104G>T
ENST00000420124.4:c.5884G>T MANE Select ENSP00000398837.2:p.Gly1962Cys
ENST00000673918.1:c.5818G>T ENSP00000501283.1:p.Gly1940Cys
ENST00000674114.1:c.3206G>T
ENST00000420124.2:c.5884G>T ENSP00000398837.1:p.Gly1962Cys
NM_014727.2:c.5884G>T NP_055542.1:p.Gly1962Cys
XM_011527561.1:c.5818G>T XP_011525863.1:p.Gly1940Cys
XM_011527562.1:c.5884G>T XP_011525864.1:p.Gly1962Cys
XM_011527563.1:c.5608G>T XP_011525865.1:p.Gly1870Cys
XM_011527561.2:c.5320G>T XP_011525863.2:p.Gly1774Cys
XM_011527562.2:c.5884G>T XP_011525864.1:p.Gly1962Cys
XM_017027544.1:c.5884G>T XP_016883033.1:p.Gly1962Cys
XM_017027545.1:c.5320G>T XP_016883034.1:p.Gly1774Cys
XM_017027546.1:c.2848G>T XP_016883035.1:p.Gly950Cys
NM_014727.3:c.5884G>T MANE Select NP_055542.1:p.Gly1962Cys