Canonical Allele Identifier: CA405427291
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732797C>G , CM000681.2:g.35732797C>G GRCh38
NC_000019.9:g.36223698C>G , CM000681.1:g.36223698C>G GRCh37
NC_000019.8:g.40915538C>G NCBI36
NG_052906.1:g.19779C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.554C>G
ENST00000673918.2:c.6182C>G ENSP00000501283.1:p.Thr2061Arg
ENST00000674114.2:c.3789C>G ENSP00000501039.2:n.3789C>G
ENST00000684977.1:c.1466C>G ENSP00000509384.1:p.Thr489Arg
ENST00000689544.1:n.1401C>G
ENST00000691421.1:c.1469C>G ENSP00000508674.1:p.Thr490Arg
ENST00000691855.1:c.5790C>G
ENST00000692961.1:c.6248C>G ENSP00000509289.1:p.Thr2083Arg
ENST00000693677.1:c.704+468C>G ENSP00000509779.1:n.704+468C>G
ENST00000420124.4:c.6248C>G MANE Select ENSP00000398837.2:p.Thr2083Arg
ENST00000673918.1:c.6182C>G ENSP00000501283.1:p.Thr2061Arg
ENST00000674114.1:c.3570C>G
ENST00000420124.2:c.6248C>G ENSP00000398837.1:p.Thr2083Arg
NM_014727.2:c.6248C>G NP_055542.1:p.Thr2083Arg
XM_011527561.1:c.6182C>G XP_011525863.1:p.Thr2061Arg
XM_011527562.1:c.6248C>G XP_011525864.1:p.Thr2083Arg
XM_011527563.1:c.5972C>G XP_011525865.1:p.Thr1991Arg
XM_011527561.2:c.5684C>G XP_011525863.2:p.Thr1895Arg
XM_011527562.2:c.6248C>G XP_011525864.1:p.Thr2083Arg
XM_017027544.1:c.6248C>G XP_016883033.1:p.Thr2083Arg
XM_017027545.1:c.5684C>G XP_016883034.1:p.Thr1895Arg
XM_017027546.1:c.3212C>G XP_016883035.1:p.Thr1071Arg
NM_014727.3:c.6248C>G MANE Select NP_055542.1:p.Thr2083Arg