Canonical Allele Identifier: CA405428976
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs1969774675

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733060G>C , CM000681.2:g.35733060G>C GRCh38
NC_000019.9:g.36223961G>C , CM000681.1:g.36223961G>C GRCh37
NC_000019.8:g.40915801G>C NCBI36
NG_052906.1:g.20042G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.817G>C
ENST00000673918.2:c.6445G>C ENSP00000501283.1:p.Gly2149Arg
ENST00000674114.2:c.4052G>C ENSP00000501039.2:n.4052G>C
ENST00000684977.1:c.1729G>C ENSP00000509384.1:p.Gly577Arg
ENST00000689544.1:n.1664G>C
ENST00000691421.1:c.1732G>C ENSP00000508674.1:p.Gly578Arg
ENST00000691855.1:c.6053G>C
ENST00000692961.1:c.6511G>C ENSP00000509289.1:p.Gly2171Arg
ENST00000693677.1:c.705-537G>C ENSP00000509779.1:n.705-537G>C
ENST00000420124.4:c.6511G>C MANE Select ENSP00000398837.2:p.Gly2171Arg
ENST00000673918.1:c.6445G>C ENSP00000501283.1:p.Gly2149Arg
ENST00000674114.1:c.3833G>C
ENST00000420124.2:c.6511G>C ENSP00000398837.1:p.Gly2171Arg
NM_014727.2:c.6511G>C NP_055542.1:p.Gly2171Arg
XM_011527561.1:c.6445G>C XP_011525863.1:p.Gly2149Arg
XM_011527562.1:c.6511G>C XP_011525864.1:p.Gly2171Arg
XM_011527563.1:c.6235G>C XP_011525865.1:p.Gly2079Arg
XM_011527561.2:c.5947G>C XP_011525863.2:p.Gly1983Arg
XM_011527562.2:c.6511G>C XP_011525864.1:p.Gly2171Arg
XM_017027544.1:c.6511G>C XP_016883033.1:p.Gly2171Arg
XM_017027545.1:c.5947G>C XP_016883034.1:p.Gly1983Arg
XM_017027546.1:c.3475G>C XP_016883035.1:p.Gly1159Arg
NM_014727.3:c.6511G>C MANE Select NP_055542.1:p.Gly2171Arg