Canonical Allele Identifier: CA405424645
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732485A>G , CM000681.2:g.35732485A>G GRCh38
NC_000019.9:g.36223386A>G , CM000681.1:g.36223386A>G GRCh37
NC_000019.8:g.40915226A>G NCBI36
NG_052906.1:g.19467A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.242A>G
ENST00000673918.2:c.5870A>G ENSP00000501283.1:p.Asp1957Gly
ENST00000674114.2:c.3477A>G ENSP00000501039.2:n.3477A>G
ENST00000684977.1:c.1154A>G ENSP00000509384.1:p.Asp385Gly
ENST00000689544.1:n.1089A>G
ENST00000691421.1:c.1157A>G ENSP00000508674.1:p.Asp386Gly
ENST00000691855.1:c.5478A>G
ENST00000692961.1:c.5936A>G ENSP00000509289.1:p.Asp1979Gly
ENST00000693677.1:c.704+156A>G ENSP00000509779.1:n.704+156A>G
ENST00000420124.4:c.5936A>G MANE Select ENSP00000398837.2:p.Asp1979Gly
ENST00000673918.1:c.5870A>G ENSP00000501283.1:p.Asp1957Gly
ENST00000674114.1:c.3258A>G
ENST00000420124.2:c.5936A>G ENSP00000398837.1:p.Asp1979Gly
NM_014727.2:c.5936A>G NP_055542.1:p.Asp1979Gly
XM_011527561.1:c.5870A>G XP_011525863.1:p.Asp1957Gly
XM_011527562.1:c.5936A>G XP_011525864.1:p.Asp1979Gly
XM_011527563.1:c.5660A>G XP_011525865.1:p.Asp1887Gly
XM_011527561.2:c.5372A>G XP_011525863.2:p.Asp1791Gly
XM_011527562.2:c.5936A>G XP_011525864.1:p.Asp1979Gly
XM_017027544.1:c.5936A>G XP_016883033.1:p.Asp1979Gly
XM_017027545.1:c.5372A>G XP_016883034.1:p.Asp1791Gly
XM_017027546.1:c.2900A>G XP_016883035.1:p.Asp967Gly
NM_014727.3:c.5936A>G MANE Select NP_055542.1:p.Asp1979Gly