Canonical Allele Identifier: CA405424684
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs1308506360

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732490G>C , CM000681.2:g.35732490G>C GRCh38
NC_000019.9:g.36223391G>C , CM000681.1:g.36223391G>C GRCh37
NC_000019.8:g.40915231G>C NCBI36
NG_052906.1:g.19472G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.247G>C
ENST00000673918.2:c.5875G>C ENSP00000501283.1:p.Glu1959Gln
ENST00000674114.2:c.3482G>C ENSP00000501039.2:n.3482G>C
ENST00000684977.1:c.1159G>C ENSP00000509384.1:p.Glu387Gln
ENST00000689544.1:n.1094G>C
ENST00000691421.1:c.1162G>C ENSP00000508674.1:p.Glu388Gln
ENST00000691855.1:c.5483G>C
ENST00000692961.1:c.5941G>C ENSP00000509289.1:p.Glu1981Gln
ENST00000693677.1:c.704+161G>C ENSP00000509779.1:n.704+161G>C
ENST00000420124.4:c.5941G>C MANE Select ENSP00000398837.2:p.Glu1981Gln
ENST00000673918.1:c.5875G>C ENSP00000501283.1:p.Glu1959Gln
ENST00000674114.1:c.3263G>C
ENST00000420124.2:c.5941G>C ENSP00000398837.1:p.Glu1981Gln
NM_014727.2:c.5941G>C NP_055542.1:p.Glu1981Gln
XM_011527561.1:c.5875G>C XP_011525863.1:p.Glu1959Gln
XM_011527562.1:c.5941G>C XP_011525864.1:p.Glu1981Gln
XM_011527563.1:c.5665G>C XP_011525865.1:p.Glu1889Gln
XM_011527561.2:c.5377G>C XP_011525863.2:p.Glu1793Gln
XM_011527562.2:c.5941G>C XP_011525864.1:p.Glu1981Gln
XM_017027544.1:c.5941G>C XP_016883033.1:p.Glu1981Gln
XM_017027545.1:c.5377G>C XP_016883034.1:p.Glu1793Gln
XM_017027546.1:c.2905G>C XP_016883035.1:p.Glu969Gln
NM_014727.3:c.5941G>C MANE Select NP_055542.1:p.Glu1981Gln