Canonical Allele Identifier: CA405432212
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733851T>A , CM000681.2:g.35733851T>A GRCh38
NC_000019.9:g.36224752T>A , CM000681.1:g.36224752T>A GRCh37
NC_000019.8:g.40916592T>A NCBI36
NG_052906.1:g.20833T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.1608T>A
ENST00000673918.2:c.7072T>A ENSP00000501283.1:p.Ser2358Thr
ENST00000674114.2:c.4679T>A ENSP00000501039.2:n.4679T>A
ENST00000684977.1:c.2333T>A ENSP00000509384.1:n.2333T>A
ENST00000689544.1:n.2379T>A
ENST00000689929.1:c.89T>A
ENST00000691421.1:c.2269T>A ENSP00000508674.1:p.Ser757Thr
ENST00000691855.1:c.6680T>A
ENST00000692961.1:c.7062T>A ENSP00000509289.1:p.Ser2354Arg
ENST00000693175.1:c.89T>A
ENST00000693677.1:c.883T>A ENSP00000509779.1:p.Ser295Thr
ENST00000420124.4:c.7138T>A MANE Select ENSP00000398837.2:p.Ser2380Thr
ENST00000673918.1:c.7072T>A ENSP00000501283.1:p.Ser2358Thr
ENST00000674114.1:c.4460T>A
ENST00000420124.2:c.7138T>A ENSP00000398837.1:p.Ser2380Thr
ENST00000592092.1:n.518T>A
NM_014727.2:c.7138T>A NP_055542.1:p.Ser2380Thr
XM_011527561.1:c.7072T>A XP_011525863.1:p.Ser2358Thr
XM_011527562.1:c.7138T>A XP_011525864.1:p.Ser2380Thr
XM_011527563.1:c.6862T>A XP_011525865.1:p.Ser2288Thr
XM_011527561.2:c.6574T>A XP_011525863.2:p.Ser2192Thr
XM_011527562.2:c.7138T>A XP_011525864.1:p.Ser2380Thr
XM_017027544.1:c.7048T>A XP_016883033.1:p.Ser2350Thr
XM_017027545.1:c.6574T>A XP_016883034.1:p.Ser2192Thr
XM_017027546.1:c.4102T>A XP_016883035.1:p.Ser1368Thr
NM_014727.3:c.7138T>A MANE Select NP_055542.1:p.Ser2380Thr