Canonical Allele Identifier: CA405427252
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732793G>A , CM000681.2:g.35732793G>A GRCh38
NC_000019.9:g.36223694G>A , CM000681.1:g.36223694G>A GRCh37
NC_000019.8:g.40915534G>A NCBI36
NG_052906.1:g.19775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.550G>A
ENST00000673918.2:c.6178G>A ENSP00000501283.1:p.Gly2060Ser
ENST00000674114.2:c.3785G>A ENSP00000501039.2:n.3785G>A
ENST00000684977.1:c.1462G>A ENSP00000509384.1:p.Gly488Ser
ENST00000689544.1:n.1397G>A
ENST00000691421.1:c.1465G>A ENSP00000508674.1:p.Gly489Ser
ENST00000691855.1:c.5786G>A
ENST00000692961.1:c.6244G>A ENSP00000509289.1:p.Gly2082Ser
ENST00000693677.1:c.704+464G>A ENSP00000509779.1:n.704+464G>A
ENST00000420124.4:c.6244G>A MANE Select ENSP00000398837.2:p.Gly2082Ser
ENST00000673918.1:c.6178G>A ENSP00000501283.1:p.Gly2060Ser
ENST00000674114.1:c.3566G>A
ENST00000420124.2:c.6244G>A ENSP00000398837.1:p.Gly2082Ser
NM_014727.2:c.6244G>A NP_055542.1:p.Gly2082Ser
XM_011527561.1:c.6178G>A XP_011525863.1:p.Gly2060Ser
XM_011527562.1:c.6244G>A XP_011525864.1:p.Gly2082Ser
XM_011527563.1:c.5968G>A XP_011525865.1:p.Gly1990Ser
XM_011527561.2:c.5680G>A XP_011525863.2:p.Gly1894Ser
XM_011527562.2:c.6244G>A XP_011525864.1:p.Gly2082Ser
XM_017027544.1:c.6244G>A XP_016883033.1:p.Gly2082Ser
XM_017027545.1:c.5680G>A XP_016883034.1:p.Gly1894Ser
XM_017027546.1:c.3208G>A XP_016883035.1:p.Gly1070Ser
NM_014727.3:c.6244G>A MANE Select NP_055542.1:p.Gly2082Ser