Canonical Allele Identifier: CA405392723
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35720993A>G , CM000681.2:g.35720993A>G GRCh38
NC_000019.9:g.36211895A>G , CM000681.1:g.36211895A>G GRCh37
NC_000019.8:g.40903735A>G NCBI36
NG_052906.1:g.7975A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000673918.2:c.1580A>G ENSP00000501283.1:p.Glu527Gly
ENST00000687718.1:c.*1147A>G ENSP00000510535.1:n.*1147A>G
ENST00000689139.1:c.1144A>G
ENST00000691855.1:c.1144A>G
ENST00000692961.1:c.1646A>G ENSP00000509289.1:p.Glu549Gly
ENST00000420124.4:c.1646A>G MANE Select ENSP00000398837.2:p.Glu549Gly
ENST00000673918.1:c.1580A>G ENSP00000501283.1:p.Glu527Gly
ENST00000420124.2:c.1646A>G ENSP00000398837.1:p.Glu549Gly
ENST00000606995.2:n.39+53A>G
NM_014727.2:c.1646A>G NP_055542.1:p.Glu549Gly
XM_011527561.1:c.1580A>G XP_011525863.1:p.Glu527Gly
XM_011527562.1:c.1646A>G XP_011525864.1:p.Glu549Gly
XM_011527563.1:c.1646A>G XP_011525865.1:p.Glu549Gly
XR_935878.1:n.1670A>G
XM_011527561.2:c.1082A>G XP_011525863.2:p.Glu361Gly
XM_011527562.2:c.1646A>G XP_011525864.1:p.Glu549Gly
XM_017027544.1:c.1646A>G XP_016883033.1:p.Glu549Gly
XM_017027545.1:c.1082A>G XP_016883034.1:p.Glu361Gly
XR_935878.2:n.1847A>G
NM_014727.3:c.1646A>G MANE Select NP_055542.1:p.Glu549Gly