Canonical Allele Identifier: CA405419189
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730075G>T , CM000681.2:g.35730075G>T GRCh38
NC_000019.9:g.36220976G>T , CM000681.1:g.36220976G>T GRCh37
NC_000019.8:g.40912816G>T NCBI36
NG_052906.1:g.17057G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4960G>T ENSP00000501283.1:p.Asp1654Tyr
ENST00000674114.2:c.2567G>T ENSP00000501039.2:n.2567G>T
ENST00000684977.1:c.244G>T ENSP00000509384.1:p.Asp82Tyr
ENST00000685168.1:c.452G>T
ENST00000689544.1:n.179G>T
ENST00000691421.1:c.247G>T ENSP00000508674.1:p.Asp83Tyr
ENST00000691855.1:c.4568G>T
ENST00000692961.1:c.5026G>T ENSP00000509289.1:p.Asp1676Tyr
ENST00000420124.4:c.5026G>T MANE Select ENSP00000398837.2:p.Asp1676Tyr
ENST00000673918.1:c.4960G>T ENSP00000501283.1:p.Asp1654Tyr
ENST00000674114.1:c.2348G>T
ENST00000420124.2:c.5026G>T ENSP00000398837.1:p.Asp1676Tyr
NM_014727.2:c.5026G>T NP_055542.1:p.Asp1676Tyr
XM_011527561.1:c.4960G>T XP_011525863.1:p.Asp1654Tyr
XM_011527562.1:c.5026G>T XP_011525864.1:p.Asp1676Tyr
XM_011527563.1:c.4750G>T XP_011525865.1:p.Asp1584Tyr
XM_011527561.2:c.4462G>T XP_011525863.2:p.Asp1488Tyr
XM_011527562.2:c.5026G>T XP_011525864.1:p.Asp1676Tyr
XM_017027544.1:c.5026G>T XP_016883033.1:p.Asp1676Tyr
XM_017027545.1:c.4462G>T XP_016883034.1:p.Asp1488Tyr
XM_017027546.1:c.1990G>T XP_016883035.1:p.Asp664Tyr
NM_014727.3:c.5026G>T MANE Select NP_055542.1:p.Asp1676Tyr