Canonical Allele Identifier: CA405424435
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732445T>A , CM000681.2:g.35732445T>A GRCh38
NC_000019.9:g.36223346T>A , CM000681.1:g.36223346T>A GRCh37
NC_000019.8:g.40915186T>A NCBI36
NG_052906.1:g.19427T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.202T>A
ENST00000673918.2:c.5830T>A ENSP00000501283.1:p.Ser1944Thr
ENST00000674114.2:c.3437T>A ENSP00000501039.2:n.3437T>A
ENST00000684977.1:c.1114T>A ENSP00000509384.1:p.Ser372Thr
ENST00000689544.1:n.1049T>A
ENST00000691421.1:c.1117T>A ENSP00000508674.1:p.Ser373Thr
ENST00000691855.1:c.5438T>A
ENST00000692961.1:c.5896T>A ENSP00000509289.1:p.Ser1966Thr
ENST00000693677.1:c.704+116T>A ENSP00000509779.1:n.704+116T>A
ENST00000420124.4:c.5896T>A MANE Select ENSP00000398837.2:p.Ser1966Thr
ENST00000673918.1:c.5830T>A ENSP00000501283.1:p.Ser1944Thr
ENST00000674114.1:c.3218T>A
ENST00000420124.2:c.5896T>A ENSP00000398837.1:p.Ser1966Thr
NM_014727.2:c.5896T>A NP_055542.1:p.Ser1966Thr
XM_011527561.1:c.5830T>A XP_011525863.1:p.Ser1944Thr
XM_011527562.1:c.5896T>A XP_011525864.1:p.Ser1966Thr
XM_011527563.1:c.5620T>A XP_011525865.1:p.Ser1874Thr
XM_011527561.2:c.5332T>A XP_011525863.2:p.Ser1778Thr
XM_011527562.2:c.5896T>A XP_011525864.1:p.Ser1966Thr
XM_017027544.1:c.5896T>A XP_016883033.1:p.Ser1966Thr
XM_017027545.1:c.5332T>A XP_016883034.1:p.Ser1778Thr
XM_017027546.1:c.2860T>A XP_016883035.1:p.Ser954Thr
NM_014727.3:c.5896T>A MANE Select NP_055542.1:p.Ser1966Thr