Canonical Allele Identifier: CA405428566
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs1969771552

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732998A>G , CM000681.2:g.35732998A>G GRCh38
NC_000019.9:g.36223899A>G , CM000681.1:g.36223899A>G GRCh37
NC_000019.8:g.40915739A>G NCBI36
NG_052906.1:g.19980A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.755A>G
ENST00000673918.2:c.6383A>G ENSP00000501283.1:p.Gln2128Arg
ENST00000674114.2:c.3990A>G ENSP00000501039.2:n.3990A>G
ENST00000684977.1:c.1667A>G ENSP00000509384.1:p.Gln556Arg
ENST00000689544.1:n.1602A>G
ENST00000691421.1:c.1670A>G ENSP00000508674.1:p.Gln557Arg
ENST00000691855.1:c.5991A>G
ENST00000692961.1:c.6449A>G ENSP00000509289.1:p.Gln2150Arg
ENST00000693677.1:c.705-599A>G ENSP00000509779.1:n.705-599A>G
ENST00000420124.4:c.6449A>G MANE Select ENSP00000398837.2:p.Gln2150Arg
ENST00000673918.1:c.6383A>G ENSP00000501283.1:p.Gln2128Arg
ENST00000674114.1:c.3771A>G
ENST00000420124.2:c.6449A>G ENSP00000398837.1:p.Gln2150Arg
NM_014727.2:c.6449A>G NP_055542.1:p.Gln2150Arg
XM_011527561.1:c.6383A>G XP_011525863.1:p.Gln2128Arg
XM_011527562.1:c.6449A>G XP_011525864.1:p.Gln2150Arg
XM_011527563.1:c.6173A>G XP_011525865.1:p.Gln2058Arg
XM_011527561.2:c.5885A>G XP_011525863.2:p.Gln1962Arg
XM_011527562.2:c.6449A>G XP_011525864.1:p.Gln2150Arg
XM_017027544.1:c.6449A>G XP_016883033.1:p.Gln2150Arg
XM_017027545.1:c.5885A>G XP_016883034.1:p.Gln1962Arg
XM_017027546.1:c.3413A>G XP_016883035.1:p.Gln1138Arg
NM_014727.3:c.6449A>G MANE Select NP_055542.1:p.Gln2150Arg