Canonical Allele Identifier: CA405428234
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732943A>T , CM000681.2:g.35732943A>T GRCh38
NC_000019.9:g.36223844A>T , CM000681.1:g.36223844A>T GRCh37
NC_000019.8:g.40915684A>T NCBI36
NG_052906.1:g.19925A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.700A>T
ENST00000673918.2:c.6328A>T ENSP00000501283.1:p.Arg2110Ter
ENST00000674114.2:c.3935A>T ENSP00000501039.2:n.3935A>T
ENST00000684977.1:c.1612A>T ENSP00000509384.1:p.Arg538Ter
ENST00000689544.1:n.1547A>T
ENST00000691421.1:c.1615A>T ENSP00000508674.1:p.Arg539Ter
ENST00000691855.1:c.5936A>T
ENST00000692961.1:c.6394A>T ENSP00000509289.1:p.Arg2132Ter
ENST00000693677.1:c.704+614A>T ENSP00000509779.1:n.704+614A>T
ENST00000420124.4:c.6394A>T MANE Select ENSP00000398837.2:p.Arg2132Ter
ENST00000673918.1:c.6328A>T ENSP00000501283.1:p.Arg2110Ter
ENST00000674114.1:c.3716A>T
ENST00000420124.2:c.6394A>T ENSP00000398837.1:p.Arg2132Ter
NM_014727.2:c.6394A>T NP_055542.1:p.Arg2132Ter
XM_011527561.1:c.6328A>T XP_011525863.1:p.Arg2110Ter
XM_011527562.1:c.6394A>T XP_011525864.1:p.Arg2132Ter
XM_011527563.1:c.6118A>T XP_011525865.1:p.Arg2040Ter
XM_011527561.2:c.5830A>T XP_011525863.2:p.Arg1944Ter
XM_011527562.2:c.6394A>T XP_011525864.1:p.Arg2132Ter
XM_017027544.1:c.6394A>T XP_016883033.1:p.Arg2132Ter
XM_017027545.1:c.5830A>T XP_016883034.1:p.Arg1944Ter
XM_017027546.1:c.3358A>T XP_016883035.1:p.Arg1120Ter
NM_014727.3:c.6394A>T MANE Select NP_055542.1:p.Arg2132Ter