Canonical Allele Identifier: CA405425102
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732551A>T , CM000681.2:g.35732551A>T GRCh38
NC_000019.9:g.36223452A>T , CM000681.1:g.36223452A>T GRCh37
NC_000019.8:g.40915292A>T NCBI36
NG_052906.1:g.19533A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.308A>T
ENST00000673918.2:c.5936A>T ENSP00000501283.1:p.Glu1979Val
ENST00000674114.2:c.3543A>T ENSP00000501039.2:n.3543A>T
ENST00000684977.1:c.1220A>T ENSP00000509384.1:p.Glu407Val
ENST00000689544.1:n.1155A>T
ENST00000691421.1:c.1223A>T ENSP00000508674.1:p.Glu408Val
ENST00000691855.1:c.5544A>T
ENST00000692961.1:c.6002A>T ENSP00000509289.1:p.Glu2001Val
ENST00000693677.1:c.704+222A>T ENSP00000509779.1:n.704+222A>T
ENST00000420124.4:c.6002A>T MANE Select ENSP00000398837.2:p.Glu2001Val
ENST00000673918.1:c.5936A>T ENSP00000501283.1:p.Glu1979Val
ENST00000674114.1:c.3324A>T
ENST00000420124.2:c.6002A>T ENSP00000398837.1:p.Glu2001Val
NM_014727.2:c.6002A>T NP_055542.1:p.Glu2001Val
XM_011527561.1:c.5936A>T XP_011525863.1:p.Glu1979Val
XM_011527562.1:c.6002A>T XP_011525864.1:p.Glu2001Val
XM_011527563.1:c.5726A>T XP_011525865.1:p.Glu1909Val
XM_011527561.2:c.5438A>T XP_011525863.2:p.Glu1813Val
XM_011527562.2:c.6002A>T XP_011525864.1:p.Glu2001Val
XM_017027544.1:c.6002A>T XP_016883033.1:p.Glu2001Val
XM_017027545.1:c.5438A>T XP_016883034.1:p.Glu1813Val
XM_017027546.1:c.2966A>T XP_016883035.1:p.Glu989Val
NM_014727.3:c.6002A>T MANE Select NP_055542.1:p.Glu2001Val