Canonical Allele Identifier: CA405419303
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730098G>T , CM000681.2:g.35730098G>T GRCh38
NC_000019.9:g.36220999G>T , CM000681.1:g.36220999G>T GRCh37
NC_000019.8:g.40912839G>T NCBI36
NG_052906.1:g.17080G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4983G>T ENSP00000501283.1:p.Gln1661His
ENST00000674114.2:c.2590G>T ENSP00000501039.2:n.2590G>T
ENST00000684977.1:c.267G>T ENSP00000509384.1:p.Gln89His
ENST00000685168.1:c.475G>T
ENST00000689544.1:n.202G>T
ENST00000691421.1:c.270G>T ENSP00000508674.1:p.Gln90His
ENST00000691855.1:c.4591G>T
ENST00000692961.1:c.5049G>T ENSP00000509289.1:p.Gln1683His
ENST00000420124.4:c.5049G>T MANE Select ENSP00000398837.2:p.Gln1683His
ENST00000673918.1:c.4983G>T ENSP00000501283.1:p.Gln1661His
ENST00000674114.1:c.2371G>T
ENST00000420124.2:c.5049G>T ENSP00000398837.1:p.Gln1683His
NM_014727.2:c.5049G>T NP_055542.1:p.Gln1683His
XM_011527561.1:c.4983G>T XP_011525863.1:p.Gln1661His
XM_011527562.1:c.5049G>T XP_011525864.1:p.Gln1683His
XM_011527563.1:c.4773G>T XP_011525865.1:p.Gln1591His
XM_011527561.2:c.4485G>T XP_011525863.2:p.Gln1495His
XM_011527562.2:c.5049G>T XP_011525864.1:p.Gln1683His
XM_017027544.1:c.5049G>T XP_016883033.1:p.Gln1683His
XM_017027545.1:c.4485G>T XP_016883034.1:p.Gln1495His
XM_017027546.1:c.2013G>T XP_016883035.1:p.Gln671His
NM_014727.3:c.5049G>T MANE Select NP_055542.1:p.Gln1683His