Canonical Allele Identifier: CA405424966
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732530C>G , CM000681.2:g.35732530C>G GRCh38
NC_000019.9:g.36223431C>G , CM000681.1:g.36223431C>G GRCh37
NC_000019.8:g.40915271C>G NCBI36
NG_052906.1:g.19512C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.287C>G
ENST00000673918.2:c.5915C>G ENSP00000501283.1:p.Ala1972Gly
ENST00000674114.2:c.3522C>G ENSP00000501039.2:n.3522C>G
ENST00000684977.1:c.1199C>G ENSP00000509384.1:p.Ala400Gly
ENST00000689544.1:n.1134C>G
ENST00000691421.1:c.1202C>G ENSP00000508674.1:p.Ala401Gly
ENST00000691855.1:c.5523C>G
ENST00000692961.1:c.5981C>G ENSP00000509289.1:p.Ala1994Gly
ENST00000693677.1:c.704+201C>G ENSP00000509779.1:n.704+201C>G
ENST00000420124.4:c.5981C>G MANE Select ENSP00000398837.2:p.Ala1994Gly
ENST00000673918.1:c.5915C>G ENSP00000501283.1:p.Ala1972Gly
ENST00000674114.1:c.3303C>G
ENST00000420124.2:c.5981C>G ENSP00000398837.1:p.Ala1994Gly
NM_014727.2:c.5981C>G NP_055542.1:p.Ala1994Gly
XM_011527561.1:c.5915C>G XP_011525863.1:p.Ala1972Gly
XM_011527562.1:c.5981C>G XP_011525864.1:p.Ala1994Gly
XM_011527563.1:c.5705C>G XP_011525865.1:p.Ala1902Gly
XM_011527561.2:c.5417C>G XP_011525863.2:p.Ala1806Gly
XM_011527562.2:c.5981C>G XP_011525864.1:p.Ala1994Gly
XM_017027544.1:c.5981C>G XP_016883033.1:p.Ala1994Gly
XM_017027545.1:c.5417C>G XP_016883034.1:p.Ala1806Gly
XM_017027546.1:c.2945C>G XP_016883035.1:p.Ala982Gly
NM_014727.3:c.5981C>G MANE Select NP_055542.1:p.Ala1994Gly