Canonical Allele Identifier: CA405418712
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729983T>G , CM000681.2:g.35729983T>G GRCh38
NC_000019.9:g.36220884T>G , CM000681.1:g.36220884T>G GRCh37
NC_000019.8:g.40912724T>G NCBI36
NG_052906.1:g.16965T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4868T>G ENSP00000501283.1:p.Leu1623Arg
ENST00000674114.2:c.2475T>G ENSP00000501039.2:n.2475T>G
ENST00000684977.1:c.152T>G ENSP00000509384.1:p.Leu51Arg
ENST00000685168.1:c.360T>G
ENST00000689544.1:n.87T>G
ENST00000691421.1:c.155T>G ENSP00000508674.1:p.Leu52Arg
ENST00000691855.1:c.4476T>G
ENST00000692961.1:c.4934T>G ENSP00000509289.1:p.Leu1645Arg
ENST00000420124.4:c.4934T>G MANE Select ENSP00000398837.2:p.Leu1645Arg
ENST00000673918.1:c.4868T>G ENSP00000501283.1:p.Leu1623Arg
ENST00000674114.1:c.2256T>G
ENST00000420124.2:c.4934T>G ENSP00000398837.1:p.Leu1645Arg
NM_014727.2:c.4934T>G NP_055542.1:p.Leu1645Arg
XM_011527561.1:c.4868T>G XP_011525863.1:p.Leu1623Arg
XM_011527562.1:c.4934T>G XP_011525864.1:p.Leu1645Arg
XM_011527563.1:c.4658T>G XP_011525865.1:p.Leu1553Arg
XM_011527561.2:c.4370T>G XP_011525863.2:p.Leu1457Arg
XM_011527562.2:c.4934T>G XP_011525864.1:p.Leu1645Arg
XM_017027544.1:c.4934T>G XP_016883033.1:p.Leu1645Arg
XM_017027545.1:c.4370T>G XP_016883034.1:p.Leu1457Arg
XM_017027546.1:c.1898T>G XP_016883035.1:p.Leu633Arg
NM_014727.3:c.4934T>G MANE Select NP_055542.1:p.Leu1645Arg