Canonical Allele Identifier: CA405418982
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730040T>A , CM000681.2:g.35730040T>A GRCh38
NC_000019.9:g.36220941T>A , CM000681.1:g.36220941T>A GRCh37
NC_000019.8:g.40912781T>A NCBI36
NG_052906.1:g.17022T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673918.2:c.4925T>A ENSP00000501283.1:p.Phe1642Tyr
ENST00000674114.2:c.2532T>A ENSP00000501039.2:n.2532T>A
ENST00000684977.1:c.209T>A ENSP00000509384.1:p.Phe70Tyr
ENST00000685168.1:c.417T>A
ENST00000689544.1:n.144T>A
ENST00000691421.1:c.212T>A ENSP00000508674.1:p.Phe71Tyr
ENST00000691855.1:c.4533T>A
ENST00000692961.1:c.4991T>A ENSP00000509289.1:p.Phe1664Tyr
ENST00000420124.4:c.4991T>A MANE Select ENSP00000398837.2:p.Phe1664Tyr
ENST00000673918.1:c.4925T>A ENSP00000501283.1:p.Phe1642Tyr
ENST00000674114.1:c.2313T>A
ENST00000420124.2:c.4991T>A ENSP00000398837.1:p.Phe1664Tyr
NM_014727.2:c.4991T>A NP_055542.1:p.Phe1664Tyr
XM_011527561.1:c.4925T>A XP_011525863.1:p.Phe1642Tyr
XM_011527562.1:c.4991T>A XP_011525864.1:p.Phe1664Tyr
XM_011527563.1:c.4715T>A XP_011525865.1:p.Phe1572Tyr
XM_011527561.2:c.4427T>A XP_011525863.2:p.Phe1476Tyr
XM_011527562.2:c.4991T>A XP_011525864.1:p.Phe1664Tyr
XM_017027544.1:c.4991T>A XP_016883033.1:p.Phe1664Tyr
XM_017027545.1:c.4427T>A XP_016883034.1:p.Phe1476Tyr
XM_017027546.1:c.1955T>A XP_016883035.1:p.Phe652Tyr
NM_014727.3:c.4991T>A MANE Select NP_055542.1:p.Phe1664Tyr