Canonical Allele Identifier: CA405424436
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732446C>A , CM000681.2:g.35732446C>A GRCh38
NC_000019.9:g.36223347C>A , CM000681.1:g.36223347C>A GRCh37
NC_000019.8:g.40915187C>A NCBI36
NG_052906.1:g.19428C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.203C>A
ENST00000673918.2:c.5831C>A ENSP00000501283.1:p.Ser1944Tyr
ENST00000674114.2:c.3438C>A ENSP00000501039.2:n.3438C>A
ENST00000684977.1:c.1115C>A ENSP00000509384.1:p.Ser372Tyr
ENST00000689544.1:n.1050C>A
ENST00000691421.1:c.1118C>A ENSP00000508674.1:p.Ser373Tyr
ENST00000691855.1:c.5439C>A
ENST00000692961.1:c.5897C>A ENSP00000509289.1:p.Ser1966Tyr
ENST00000693677.1:c.704+117C>A ENSP00000509779.1:n.704+117C>A
ENST00000420124.4:c.5897C>A MANE Select ENSP00000398837.2:p.Ser1966Tyr
ENST00000673918.1:c.5831C>A ENSP00000501283.1:p.Ser1944Tyr
ENST00000674114.1:c.3219C>A
ENST00000420124.2:c.5897C>A ENSP00000398837.1:p.Ser1966Tyr
NM_014727.2:c.5897C>A NP_055542.1:p.Ser1966Tyr
XM_011527561.1:c.5831C>A XP_011525863.1:p.Ser1944Tyr
XM_011527562.1:c.5897C>A XP_011525864.1:p.Ser1966Tyr
XM_011527563.1:c.5621C>A XP_011525865.1:p.Ser1874Tyr
XM_011527561.2:c.5333C>A XP_011525863.2:p.Ser1778Tyr
XM_011527562.2:c.5897C>A XP_011525864.1:p.Ser1966Tyr
XM_017027544.1:c.5897C>A XP_016883033.1:p.Ser1966Tyr
XM_017027545.1:c.5333C>A XP_016883034.1:p.Ser1778Tyr
XM_017027546.1:c.2861C>A XP_016883035.1:p.Ser954Tyr
NM_014727.3:c.5897C>A MANE Select NP_055542.1:p.Ser1966Tyr