Canonical Allele Identifier: CA405424912
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs771880175

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732523G>C , CM000681.2:g.35732523G>C GRCh38
NC_000019.9:g.36223424G>C , CM000681.1:g.36223424G>C GRCh37
NC_000019.8:g.40915264G>C NCBI36
NG_052906.1:g.19505G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.280G>C
ENST00000673918.2:c.5908G>C ENSP00000501283.1:p.Asp1970His
ENST00000674114.2:c.3515G>C ENSP00000501039.2:n.3515G>C
ENST00000684977.1:c.1192G>C ENSP00000509384.1:p.Asp398His
ENST00000689544.1:n.1127G>C
ENST00000691421.1:c.1195G>C ENSP00000508674.1:p.Asp399His
ENST00000691855.1:c.5516G>C
ENST00000692961.1:c.5974G>C ENSP00000509289.1:p.Asp1992His
ENST00000693677.1:c.704+194G>C ENSP00000509779.1:n.704+194G>C
ENST00000420124.4:c.5974G>C MANE Select ENSP00000398837.2:p.Asp1992His
ENST00000673918.1:c.5908G>C ENSP00000501283.1:p.Asp1970His
ENST00000674114.1:c.3296G>C
ENST00000420124.2:c.5974G>C ENSP00000398837.1:p.Asp1992His
NM_014727.2:c.5974G>C NP_055542.1:p.Asp1992His
XM_011527561.1:c.5908G>C XP_011525863.1:p.Asp1970His
XM_011527562.1:c.5974G>C XP_011525864.1:p.Asp1992His
XM_011527563.1:c.5698G>C XP_011525865.1:p.Asp1900His
XM_011527561.2:c.5410G>C XP_011525863.2:p.Asp1804His
XM_011527562.2:c.5974G>C XP_011525864.1:p.Asp1992His
XM_017027544.1:c.5974G>C XP_016883033.1:p.Asp1992His
XM_017027545.1:c.5410G>C XP_016883034.1:p.Asp1804His
XM_017027546.1:c.2938G>C XP_016883035.1:p.Asp980His
NM_014727.3:c.5974G>C MANE Select NP_055542.1:p.Asp1992His