Canonical Allele Identifier: CA405427227
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732790C>T , CM000681.2:g.35732790C>T GRCh38
NC_000019.9:g.36223691C>T , CM000681.1:g.36223691C>T GRCh37
NC_000019.8:g.40915531C>T NCBI36
NG_052906.1:g.19772C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.547C>T
ENST00000673918.2:c.6175C>T ENSP00000501283.1:p.Gln2059Ter
ENST00000674114.2:c.3782C>T ENSP00000501039.2:n.3782C>T
ENST00000684977.1:c.1459C>T ENSP00000509384.1:p.Gln487Ter
ENST00000689544.1:n.1394C>T
ENST00000691421.1:c.1462C>T ENSP00000508674.1:p.Gln488Ter
ENST00000691855.1:c.5783C>T
ENST00000692961.1:c.6241C>T ENSP00000509289.1:p.Gln2081Ter
ENST00000693677.1:c.704+461C>T ENSP00000509779.1:n.704+461C>T
ENST00000420124.4:c.6241C>T MANE Select ENSP00000398837.2:p.Gln2081Ter
ENST00000673918.1:c.6175C>T ENSP00000501283.1:p.Gln2059Ter
ENST00000674114.1:c.3563C>T
ENST00000420124.2:c.6241C>T ENSP00000398837.1:p.Gln2081Ter
NM_014727.2:c.6241C>T NP_055542.1:p.Gln2081Ter
XM_011527561.1:c.6175C>T XP_011525863.1:p.Gln2059Ter
XM_011527562.1:c.6241C>T XP_011525864.1:p.Gln2081Ter
XM_011527563.1:c.5965C>T XP_011525865.1:p.Gln1989Ter
XM_011527561.2:c.5677C>T XP_011525863.2:p.Gln1893Ter
XM_011527562.2:c.6241C>T XP_011525864.1:p.Gln2081Ter
XM_017027544.1:c.6241C>T XP_016883033.1:p.Gln2081Ter
XM_017027545.1:c.5677C>T XP_016883034.1:p.Gln1893Ter
XM_017027546.1:c.3205C>T XP_016883035.1:p.Gln1069Ter
NM_014727.3:c.6241C>T MANE Select NP_055542.1:p.Gln2081Ter