Canonical Allele Identifier: CA405419301
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730097A>T , CM000681.2:g.35730097A>T GRCh38
NC_000019.9:g.36220998A>T , CM000681.1:g.36220998A>T GRCh37
NC_000019.8:g.40912838A>T NCBI36
NG_052906.1:g.17079A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4982A>T ENSP00000501283.1:p.Gln1661Leu
ENST00000674114.2:c.2589A>T ENSP00000501039.2:n.2589A>T
ENST00000684977.1:c.266A>T ENSP00000509384.1:p.Gln89Leu
ENST00000685168.1:c.474A>T
ENST00000689544.1:n.201A>T
ENST00000691421.1:c.269A>T ENSP00000508674.1:p.Gln90Leu
ENST00000691855.1:c.4590A>T
ENST00000692961.1:c.5048A>T ENSP00000509289.1:p.Gln1683Leu
ENST00000420124.4:c.5048A>T MANE Select ENSP00000398837.2:p.Gln1683Leu
ENST00000673918.1:c.4982A>T ENSP00000501283.1:p.Gln1661Leu
ENST00000674114.1:c.2370A>T
ENST00000420124.2:c.5048A>T ENSP00000398837.1:p.Gln1683Leu
NM_014727.2:c.5048A>T NP_055542.1:p.Gln1683Leu
XM_011527561.1:c.4982A>T XP_011525863.1:p.Gln1661Leu
XM_011527562.1:c.5048A>T XP_011525864.1:p.Gln1683Leu
XM_011527563.1:c.4772A>T XP_011525865.1:p.Gln1591Leu
XM_011527561.2:c.4484A>T XP_011525863.2:p.Gln1495Leu
XM_011527562.2:c.5048A>T XP_011525864.1:p.Gln1683Leu
XM_017027544.1:c.5048A>T XP_016883033.1:p.Gln1683Leu
XM_017027545.1:c.4484A>T XP_016883034.1:p.Gln1495Leu
XM_017027546.1:c.2012A>T XP_016883035.1:p.Gln671Leu
NM_014727.3:c.5048A>T MANE Select NP_055542.1:p.Gln1683Leu