Canonical Allele Identifier: CA405426080
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732770C>A , CM000681.2:g.35732770C>A GRCh38
NC_000019.9:g.36223671C>A , CM000681.1:g.36223671C>A GRCh37
NC_000019.8:g.40915511C>A NCBI36
NG_052906.1:g.19752C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.527C>A
ENST00000673918.2:c.6155C>A ENSP00000501283.1:p.Ala2052Glu
ENST00000674114.2:c.3762C>A ENSP00000501039.2:n.3762C>A
ENST00000684977.1:c.1439C>A ENSP00000509384.1:p.Ala480Glu
ENST00000689544.1:n.1374C>A
ENST00000691421.1:c.1442C>A ENSP00000508674.1:p.Ala481Glu
ENST00000691855.1:c.5763C>A
ENST00000692961.1:c.6221C>A ENSP00000509289.1:p.Ala2074Glu
ENST00000693677.1:c.704+441C>A ENSP00000509779.1:n.704+441C>A
ENST00000420124.4:c.6221C>A MANE Select ENSP00000398837.2:p.Ala2074Glu
ENST00000673918.1:c.6155C>A ENSP00000501283.1:p.Ala2052Glu
ENST00000674114.1:c.3543C>A
ENST00000420124.2:c.6221C>A ENSP00000398837.1:p.Ala2074Glu
NM_014727.2:c.6221C>A NP_055542.1:p.Ala2074Glu
XM_011527561.1:c.6155C>A XP_011525863.1:p.Ala2052Glu
XM_011527562.1:c.6221C>A XP_011525864.1:p.Ala2074Glu
XM_011527563.1:c.5945C>A XP_011525865.1:p.Ala1982Glu
XM_011527561.2:c.5657C>A XP_011525863.2:p.Ala1886Glu
XM_011527562.2:c.6221C>A XP_011525864.1:p.Ala2074Glu
XM_017027544.1:c.6221C>A XP_016883033.1:p.Ala2074Glu
XM_017027545.1:c.5657C>A XP_016883034.1:p.Ala1886Glu
XM_017027546.1:c.3185C>A XP_016883035.1:p.Ala1062Glu
NM_014727.3:c.6221C>A MANE Select NP_055542.1:p.Ala2074Glu