Canonical Allele Identifier: CA405418940
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730034T>A , CM000681.2:g.35730034T>A GRCh38
NC_000019.9:g.36220935T>A , CM000681.1:g.36220935T>A GRCh37
NC_000019.8:g.40912775T>A NCBI36
NG_052906.1:g.17016T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4919T>A ENSP00000501283.1:p.Phe1640Tyr
ENST00000674114.2:c.2526T>A ENSP00000501039.2:n.2526T>A
ENST00000684977.1:c.203T>A ENSP00000509384.1:p.Phe68Tyr
ENST00000685168.1:c.411T>A
ENST00000689544.1:n.138T>A
ENST00000691421.1:c.206T>A ENSP00000508674.1:p.Phe69Tyr
ENST00000691855.1:c.4527T>A
ENST00000692961.1:c.4985T>A ENSP00000509289.1:p.Phe1662Tyr
ENST00000420124.4:c.4985T>A MANE Select ENSP00000398837.2:p.Phe1662Tyr
ENST00000673918.1:c.4919T>A ENSP00000501283.1:p.Phe1640Tyr
ENST00000674114.1:c.2307T>A
ENST00000420124.2:c.4985T>A ENSP00000398837.1:p.Phe1662Tyr
NM_014727.2:c.4985T>A NP_055542.1:p.Phe1662Tyr
XM_011527561.1:c.4919T>A XP_011525863.1:p.Phe1640Tyr
XM_011527562.1:c.4985T>A XP_011525864.1:p.Phe1662Tyr
XM_011527563.1:c.4709T>A XP_011525865.1:p.Phe1570Tyr
XM_011527561.2:c.4421T>A XP_011525863.2:p.Phe1474Tyr
XM_011527562.2:c.4985T>A XP_011525864.1:p.Phe1662Tyr
XM_017027544.1:c.4985T>A XP_016883033.1:p.Phe1662Tyr
XM_017027545.1:c.4421T>A XP_016883034.1:p.Phe1474Tyr
XM_017027546.1:c.1949T>A XP_016883035.1:p.Phe650Tyr
NM_014727.3:c.4985T>A MANE Select NP_055542.1:p.Phe1662Tyr