Canonical Allele Identifier: CA405418708
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729982C>A , CM000681.2:g.35729982C>A GRCh38
NC_000019.9:g.36220883C>A , CM000681.1:g.36220883C>A GRCh37
NC_000019.8:g.40912723C>A NCBI36
NG_052906.1:g.16964C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673918.2:c.4867C>A ENSP00000501283.1:p.Leu1623Met
ENST00000674114.2:c.2474C>A ENSP00000501039.2:n.2474C>A
ENST00000684977.1:c.151C>A ENSP00000509384.1:p.Leu51Met
ENST00000685168.1:c.359C>A
ENST00000689544.1:n.86C>A
ENST00000691421.1:c.154C>A ENSP00000508674.1:p.Leu52Met
ENST00000691855.1:c.4475C>A
ENST00000692961.1:c.4933C>A ENSP00000509289.1:p.Leu1645Met
ENST00000420124.4:c.4933C>A MANE Select ENSP00000398837.2:p.Leu1645Met
ENST00000673918.1:c.4867C>A ENSP00000501283.1:p.Leu1623Met
ENST00000674114.1:c.2255C>A
ENST00000420124.2:c.4933C>A ENSP00000398837.1:p.Leu1645Met
NM_014727.2:c.4933C>A NP_055542.1:p.Leu1645Met
XM_011527561.1:c.4867C>A XP_011525863.1:p.Leu1623Met
XM_011527562.1:c.4933C>A XP_011525864.1:p.Leu1645Met
XM_011527563.1:c.4657C>A XP_011525865.1:p.Leu1553Met
XM_011527561.2:c.4369C>A XP_011525863.2:p.Leu1457Met
XM_011527562.2:c.4933C>A XP_011525864.1:p.Leu1645Met
XM_017027544.1:c.4933C>A XP_016883033.1:p.Leu1645Met
XM_017027545.1:c.4369C>A XP_016883034.1:p.Leu1457Met
XM_017027546.1:c.1897C>A XP_016883035.1:p.Leu633Met
NM_014727.3:c.4933C>A MANE Select NP_055542.1:p.Leu1645Met