Canonical Allele Identifier: CA405427349
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732805T>A , CM000681.2:g.35732805T>A GRCh38
NC_000019.9:g.36223706T>A , CM000681.1:g.36223706T>A GRCh37
NC_000019.8:g.40915546T>A NCBI36
NG_052906.1:g.19787T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.562T>A
ENST00000673918.2:c.6190T>A ENSP00000501283.1:p.Ser2064Thr
ENST00000674114.2:c.3797T>A ENSP00000501039.2:n.3797T>A
ENST00000684977.1:c.1474T>A ENSP00000509384.1:p.Ser492Thr
ENST00000689544.1:n.1409T>A
ENST00000691421.1:c.1477T>A ENSP00000508674.1:p.Ser493Thr
ENST00000691855.1:c.5798T>A
ENST00000692961.1:c.6256T>A ENSP00000509289.1:p.Ser2086Thr
ENST00000693677.1:c.704+476T>A ENSP00000509779.1:n.704+476T>A
ENST00000420124.4:c.6256T>A MANE Select ENSP00000398837.2:p.Ser2086Thr
ENST00000673918.1:c.6190T>A ENSP00000501283.1:p.Ser2064Thr
ENST00000674114.1:c.3578T>A
ENST00000420124.2:c.6256T>A ENSP00000398837.1:p.Ser2086Thr
NM_014727.2:c.6256T>A NP_055542.1:p.Ser2086Thr
XM_011527561.1:c.6190T>A XP_011525863.1:p.Ser2064Thr
XM_011527562.1:c.6256T>A XP_011525864.1:p.Ser2086Thr
XM_011527563.1:c.5980T>A XP_011525865.1:p.Ser1994Thr
XM_011527561.2:c.5692T>A XP_011525863.2:p.Ser1898Thr
XM_011527562.2:c.6256T>A XP_011525864.1:p.Ser2086Thr
XM_017027544.1:c.6256T>A XP_016883033.1:p.Ser2086Thr
XM_017027545.1:c.5692T>A XP_016883034.1:p.Ser1898Thr
XM_017027546.1:c.3220T>A XP_016883035.1:p.Ser1074Thr
NM_014727.3:c.6256T>A MANE Select NP_055542.1:p.Ser2086Thr