Canonical Allele Identifier: CA405431506
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733770C>G , CM000681.2:g.35733770C>G GRCh38
NC_000019.9:g.36224671C>G , CM000681.1:g.36224671C>G GRCh37
NC_000019.8:g.40916511C>G NCBI36
NG_052906.1:g.20752C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000592092.2:n.1527C>G
ENST00000673918.2:c.6991C>G ENSP00000501283.1:p.Gln2331Glu
ENST00000674114.2:c.4598C>G ENSP00000501039.2:n.4598C>G
ENST00000684977.1:c.2252C>G ENSP00000509384.1:n.2252C>G
ENST00000689544.1:n.2298C>G
ENST00000689929.1:c.8C>G
ENST00000691421.1:c.2188C>G ENSP00000508674.1:p.Gln730Glu
ENST00000691855.1:c.6599C>G
ENST00000692961.1:c.6981C>G ENSP00000509289.1:p.Ser2327=
ENST00000693175.1:c.8C>G
ENST00000693677.1:c.802C>G ENSP00000509779.1:p.Gln268Glu
ENST00000420124.4:c.7057C>G MANE Select ENSP00000398837.2:p.Gln2353Glu
ENST00000673918.1:c.6991C>G ENSP00000501283.1:p.Gln2331Glu
ENST00000674114.1:c.4379C>G
ENST00000420124.2:c.7057C>G ENSP00000398837.1:p.Gln2353Glu
ENST00000592092.1:n.437C>G
NM_014727.2:c.7057C>G NP_055542.1:p.Gln2353Glu
XM_011527561.1:c.6991C>G XP_011525863.1:p.Gln2331Glu
XM_011527562.1:c.7057C>G XP_011525864.1:p.Gln2353Glu
XM_011527563.1:c.6781C>G XP_011525865.1:p.Gln2261Glu
XM_011527561.2:c.6493C>G XP_011525863.2:p.Gln2165Glu
XM_011527562.2:c.7057C>G XP_011525864.1:p.Gln2353Glu
XM_017027544.1:c.6967C>G XP_016883033.1:p.Gln2323Glu
XM_017027545.1:c.6493C>G XP_016883034.1:p.Gln2165Glu
XM_017027546.1:c.4021C>G XP_016883035.1:p.Gln1341Glu
NM_014727.3:c.7057C>G MANE Select NP_055542.1:p.Gln2353Glu