Canonical Allele Identifier: CA405425195
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732563A>T , CM000681.2:g.35732563A>T GRCh38
NC_000019.9:g.36223464A>T , CM000681.1:g.36223464A>T GRCh37
NC_000019.8:g.40915304A>T NCBI36
NG_052906.1:g.19545A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.320A>T
ENST00000673918.2:c.5948A>T ENSP00000501283.1:p.Glu1983Val
ENST00000674114.2:c.3555A>T ENSP00000501039.2:n.3555A>T
ENST00000684977.1:c.1232A>T ENSP00000509384.1:p.Glu411Val
ENST00000689544.1:n.1167A>T
ENST00000691421.1:c.1235A>T ENSP00000508674.1:p.Glu412Val
ENST00000691855.1:c.5556A>T
ENST00000692961.1:c.6014A>T ENSP00000509289.1:p.Glu2005Val
ENST00000693677.1:c.704+234A>T ENSP00000509779.1:n.704+234A>T
ENST00000420124.4:c.6014A>T MANE Select ENSP00000398837.2:p.Glu2005Val
ENST00000673918.1:c.5948A>T ENSP00000501283.1:p.Glu1983Val
ENST00000674114.1:c.3336A>T
ENST00000420124.2:c.6014A>T ENSP00000398837.1:p.Glu2005Val
NM_014727.2:c.6014A>T NP_055542.1:p.Glu2005Val
XM_011527561.1:c.5948A>T XP_011525863.1:p.Glu1983Val
XM_011527562.1:c.6014A>T XP_011525864.1:p.Glu2005Val
XM_011527563.1:c.5738A>T XP_011525865.1:p.Glu1913Val
XM_011527561.2:c.5450A>T XP_011525863.2:p.Glu1817Val
XM_011527562.2:c.6014A>T XP_011525864.1:p.Glu2005Val
XM_017027544.1:c.6014A>T XP_016883033.1:p.Glu2005Val
XM_017027545.1:c.5450A>T XP_016883034.1:p.Glu1817Val
XM_017027546.1:c.2978A>T XP_016883035.1:p.Glu993Val
NM_014727.3:c.6014A>T MANE Select NP_055542.1:p.Glu2005Val