Canonical Allele Identifier: CA405424640
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732484G>C , CM000681.2:g.35732484G>C GRCh38
NC_000019.9:g.36223385G>C , CM000681.1:g.36223385G>C GRCh37
NC_000019.8:g.40915225G>C NCBI36
NG_052906.1:g.19466G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.241G>C
ENST00000673918.2:c.5869G>C ENSP00000501283.1:p.Asp1957His
ENST00000674114.2:c.3476G>C ENSP00000501039.2:n.3476G>C
ENST00000684977.1:c.1153G>C ENSP00000509384.1:p.Asp385His
ENST00000689544.1:n.1088G>C
ENST00000691421.1:c.1156G>C ENSP00000508674.1:p.Asp386His
ENST00000691855.1:c.5477G>C
ENST00000692961.1:c.5935G>C ENSP00000509289.1:p.Asp1979His
ENST00000693677.1:c.704+155G>C ENSP00000509779.1:n.704+155G>C
ENST00000420124.4:c.5935G>C MANE Select ENSP00000398837.2:p.Asp1979His
ENST00000673918.1:c.5869G>C ENSP00000501283.1:p.Asp1957His
ENST00000674114.1:c.3257G>C
ENST00000420124.2:c.5935G>C ENSP00000398837.1:p.Asp1979His
NM_014727.2:c.5935G>C NP_055542.1:p.Asp1979His
XM_011527561.1:c.5869G>C XP_011525863.1:p.Asp1957His
XM_011527562.1:c.5935G>C XP_011525864.1:p.Asp1979His
XM_011527563.1:c.5659G>C XP_011525865.1:p.Asp1887His
XM_011527561.2:c.5371G>C XP_011525863.2:p.Asp1791His
XM_011527562.2:c.5935G>C XP_011525864.1:p.Asp1979His
XM_017027544.1:c.5935G>C XP_016883033.1:p.Asp1979His
XM_017027545.1:c.5371G>C XP_016883034.1:p.Asp1791His
XM_017027546.1:c.2899G>C XP_016883035.1:p.Asp967His
NM_014727.3:c.5935G>C MANE Select NP_055542.1:p.Asp1979His