Canonical Allele Identifier: CA405428184
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732935C>A , CM000681.2:g.35732935C>A GRCh38
NC_000019.9:g.36223836C>A , CM000681.1:g.36223836C>A GRCh37
NC_000019.8:g.40915676C>A NCBI36
NG_052906.1:g.19917C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.692C>A
ENST00000673918.2:c.6320C>A ENSP00000501283.1:p.Ala2107Asp
ENST00000674114.2:c.3927C>A ENSP00000501039.2:n.3927C>A
ENST00000684977.1:c.1604C>A ENSP00000509384.1:p.Ala535Asp
ENST00000689544.1:n.1539C>A
ENST00000691421.1:c.1607C>A ENSP00000508674.1:p.Ala536Asp
ENST00000691855.1:c.5928C>A
ENST00000692961.1:c.6386C>A ENSP00000509289.1:p.Ala2129Asp
ENST00000693677.1:c.704+606C>A ENSP00000509779.1:n.704+606C>A
ENST00000420124.4:c.6386C>A MANE Select ENSP00000398837.2:p.Ala2129Asp
ENST00000673918.1:c.6320C>A ENSP00000501283.1:p.Ala2107Asp
ENST00000674114.1:c.3708C>A
ENST00000420124.2:c.6386C>A ENSP00000398837.1:p.Ala2129Asp
NM_014727.2:c.6386C>A NP_055542.1:p.Ala2129Asp
XM_011527561.1:c.6320C>A XP_011525863.1:p.Ala2107Asp
XM_011527562.1:c.6386C>A XP_011525864.1:p.Ala2129Asp
XM_011527563.1:c.6110C>A XP_011525865.1:p.Ala2037Asp
XM_011527561.2:c.5822C>A XP_011525863.2:p.Ala1941Asp
XM_011527562.2:c.6386C>A XP_011525864.1:p.Ala2129Asp
XM_017027544.1:c.6386C>A XP_016883033.1:p.Ala2129Asp
XM_017027545.1:c.5822C>A XP_016883034.1:p.Ala1941Asp
XM_017027546.1:c.3350C>A XP_016883035.1:p.Ala1117Asp
NM_014727.3:c.6386C>A MANE Select NP_055542.1:p.Ala2129Asp