Canonical Allele Identifier: CA405419284
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730091T>A , CM000681.2:g.35730091T>A GRCh38
NC_000019.9:g.36220992T>A , CM000681.1:g.36220992T>A GRCh37
NC_000019.8:g.40912832T>A NCBI36
NG_052906.1:g.17073T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4976T>A ENSP00000501283.1:p.Phe1659Tyr
ENST00000674114.2:c.2583T>A ENSP00000501039.2:n.2583T>A
ENST00000684977.1:c.260T>A ENSP00000509384.1:p.Phe87Tyr
ENST00000685168.1:c.468T>A
ENST00000689544.1:n.195T>A
ENST00000691421.1:c.263T>A ENSP00000508674.1:p.Phe88Tyr
ENST00000691855.1:c.4584T>A
ENST00000692961.1:c.5042T>A ENSP00000509289.1:p.Phe1681Tyr
ENST00000420124.4:c.5042T>A MANE Select ENSP00000398837.2:p.Phe1681Tyr
ENST00000673918.1:c.4976T>A ENSP00000501283.1:p.Phe1659Tyr
ENST00000674114.1:c.2364T>A
ENST00000420124.2:c.5042T>A ENSP00000398837.1:p.Phe1681Tyr
NM_014727.2:c.5042T>A NP_055542.1:p.Phe1681Tyr
XM_011527561.1:c.4976T>A XP_011525863.1:p.Phe1659Tyr
XM_011527562.1:c.5042T>A XP_011525864.1:p.Phe1681Tyr
XM_011527563.1:c.4766T>A XP_011525865.1:p.Phe1589Tyr
XM_011527561.2:c.4478T>A XP_011525863.2:p.Phe1493Tyr
XM_011527562.2:c.5042T>A XP_011525864.1:p.Phe1681Tyr
XM_017027544.1:c.5042T>A XP_016883033.1:p.Phe1681Tyr
XM_017027545.1:c.4478T>A XP_016883034.1:p.Phe1493Tyr
XM_017027546.1:c.2006T>A XP_016883035.1:p.Phe669Tyr
NM_014727.3:c.5042T>A MANE Select NP_055542.1:p.Phe1681Tyr