Canonical Allele Identifier: CA405428722
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733022A>G , CM000681.2:g.35733022A>G GRCh38
NC_000019.9:g.36223923A>G , CM000681.1:g.36223923A>G GRCh37
NC_000019.8:g.40915763A>G NCBI36
NG_052906.1:g.20004A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.779A>G
ENST00000673918.2:c.6407A>G ENSP00000501283.1:p.Asp2136Gly
ENST00000674114.2:c.4014A>G ENSP00000501039.2:n.4014A>G
ENST00000684977.1:c.1691A>G ENSP00000509384.1:p.Asp564Gly
ENST00000689544.1:n.1626A>G
ENST00000691421.1:c.1694A>G ENSP00000508674.1:p.Asp565Gly
ENST00000691855.1:c.6015A>G
ENST00000692961.1:c.6473A>G ENSP00000509289.1:p.Asp2158Gly
ENST00000693677.1:c.705-575A>G ENSP00000509779.1:n.705-575A>G
ENST00000420124.4:c.6473A>G MANE Select ENSP00000398837.2:p.Asp2158Gly
ENST00000673918.1:c.6407A>G ENSP00000501283.1:p.Asp2136Gly
ENST00000674114.1:c.3795A>G
ENST00000420124.2:c.6473A>G ENSP00000398837.1:p.Asp2158Gly
NM_014727.2:c.6473A>G NP_055542.1:p.Asp2158Gly
XM_011527561.1:c.6407A>G XP_011525863.1:p.Asp2136Gly
XM_011527562.1:c.6473A>G XP_011525864.1:p.Asp2158Gly
XM_011527563.1:c.6197A>G XP_011525865.1:p.Asp2066Gly
XM_011527561.2:c.5909A>G XP_011525863.2:p.Asp1970Gly
XM_011527562.2:c.6473A>G XP_011525864.1:p.Asp2158Gly
XM_017027544.1:c.6473A>G XP_016883033.1:p.Asp2158Gly
XM_017027545.1:c.5909A>G XP_016883034.1:p.Asp1970Gly
XM_017027546.1:c.3437A>G XP_016883035.1:p.Asp1146Gly
NM_014727.3:c.6473A>G MANE Select NP_055542.1:p.Asp2158Gly