Canonical Allele Identifier: CA405425999
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732733G>T , CM000681.2:g.35732733G>T GRCh38
NC_000019.9:g.36223634G>T , CM000681.1:g.36223634G>T GRCh37
NC_000019.8:g.40915474G>T NCBI36
NG_052906.1:g.19715G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.490G>T
ENST00000673918.2:c.6118G>T ENSP00000501283.1:p.Asp2040Tyr
ENST00000674114.2:c.3725G>T ENSP00000501039.2:n.3725G>T
ENST00000684977.1:c.1402G>T ENSP00000509384.1:p.Asp468Tyr
ENST00000689544.1:n.1337G>T
ENST00000691421.1:c.1405G>T ENSP00000508674.1:p.Asp469Tyr
ENST00000691855.1:c.5726G>T
ENST00000692961.1:c.6184G>T ENSP00000509289.1:p.Asp2062Tyr
ENST00000693677.1:c.704+404G>T ENSP00000509779.1:n.704+404G>T
ENST00000420124.4:c.6184G>T MANE Select ENSP00000398837.2:p.Asp2062Tyr
ENST00000673918.1:c.6118G>T ENSP00000501283.1:p.Asp2040Tyr
ENST00000674114.1:c.3506G>T
ENST00000420124.2:c.6184G>T ENSP00000398837.1:p.Asp2062Tyr
NM_014727.2:c.6184G>T NP_055542.1:p.Asp2062Tyr
XM_011527561.1:c.6118G>T XP_011525863.1:p.Asp2040Tyr
XM_011527562.1:c.6184G>T XP_011525864.1:p.Asp2062Tyr
XM_011527563.1:c.5908G>T XP_011525865.1:p.Asp1970Tyr
XM_011527561.2:c.5620G>T XP_011525863.2:p.Asp1874Tyr
XM_011527562.2:c.6184G>T XP_011525864.1:p.Asp2062Tyr
XM_017027544.1:c.6184G>T XP_016883033.1:p.Asp2062Tyr
XM_017027545.1:c.5620G>T XP_016883034.1:p.Asp1874Tyr
XM_017027546.1:c.3148G>T XP_016883035.1:p.Asp1050Tyr
NM_014727.3:c.6184G>T MANE Select NP_055542.1:p.Asp2062Tyr