Canonical Allele Identifier: CA405428731
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733023C>G , CM000681.2:g.35733023C>G GRCh38
NC_000019.9:g.36223924C>G , CM000681.1:g.36223924C>G GRCh37
NC_000019.8:g.40915764C>G NCBI36
NG_052906.1:g.20005C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.780C>G
ENST00000673918.2:c.6408C>G ENSP00000501283.1:p.Asp2136Glu
ENST00000674114.2:c.4015C>G ENSP00000501039.2:n.4015C>G
ENST00000684977.1:c.1692C>G ENSP00000509384.1:p.Asp564Glu
ENST00000689544.1:n.1627C>G
ENST00000691421.1:c.1695C>G ENSP00000508674.1:p.Asp565Glu
ENST00000691855.1:c.6016C>G
ENST00000692961.1:c.6474C>G ENSP00000509289.1:p.Asp2158Glu
ENST00000693677.1:c.705-574C>G ENSP00000509779.1:n.705-574C>G
ENST00000420124.4:c.6474C>G MANE Select ENSP00000398837.2:p.Asp2158Glu
ENST00000673918.1:c.6408C>G ENSP00000501283.1:p.Asp2136Glu
ENST00000674114.1:c.3796C>G
ENST00000420124.2:c.6474C>G ENSP00000398837.1:p.Asp2158Glu
NM_014727.2:c.6474C>G NP_055542.1:p.Asp2158Glu
XM_011527561.1:c.6408C>G XP_011525863.1:p.Asp2136Glu
XM_011527562.1:c.6474C>G XP_011525864.1:p.Asp2158Glu
XM_011527563.1:c.6198C>G XP_011525865.1:p.Asp2066Glu
XM_011527561.2:c.5910C>G XP_011525863.2:p.Asp1970Glu
XM_011527562.2:c.6474C>G XP_011525864.1:p.Asp2158Glu
XM_017027544.1:c.6474C>G XP_016883033.1:p.Asp2158Glu
XM_017027545.1:c.5910C>G XP_016883034.1:p.Asp1970Glu
XM_017027546.1:c.3438C>G XP_016883035.1:p.Asp1146Glu
NM_014727.3:c.6474C>G MANE Select NP_055542.1:p.Asp2158Glu