Canonical Allele Identifier: CA405425709
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732659T>G , CM000681.2:g.35732659T>G GRCh38
NC_000019.9:g.36223560T>G , CM000681.1:g.36223560T>G GRCh37
NC_000019.8:g.40915400T>G NCBI36
NG_052906.1:g.19641T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.416T>G
ENST00000673918.2:c.6044T>G ENSP00000501283.1:p.Phe2015Cys
ENST00000674114.2:c.3651T>G ENSP00000501039.2:n.3651T>G
ENST00000684977.1:c.1328T>G ENSP00000509384.1:p.Phe443Cys
ENST00000689544.1:n.1263T>G
ENST00000691421.1:c.1331T>G ENSP00000508674.1:p.Phe444Cys
ENST00000691855.1:c.5652T>G
ENST00000692961.1:c.6110T>G ENSP00000509289.1:p.Phe2037Cys
ENST00000693677.1:c.704+330T>G ENSP00000509779.1:n.704+330T>G
ENST00000420124.4:c.6110T>G MANE Select ENSP00000398837.2:p.Phe2037Cys
ENST00000673918.1:c.6044T>G ENSP00000501283.1:p.Phe2015Cys
ENST00000674114.1:c.3432T>G
ENST00000420124.2:c.6110T>G ENSP00000398837.1:p.Phe2037Cys
NM_014727.2:c.6110T>G NP_055542.1:p.Phe2037Cys
XM_011527561.1:c.6044T>G XP_011525863.1:p.Phe2015Cys
XM_011527562.1:c.6110T>G XP_011525864.1:p.Phe2037Cys
XM_011527563.1:c.5834T>G XP_011525865.1:p.Phe1945Cys
XM_011527561.2:c.5546T>G XP_011525863.2:p.Phe1849Cys
XM_011527562.2:c.6110T>G XP_011525864.1:p.Phe2037Cys
XM_017027544.1:c.6110T>G XP_016883033.1:p.Phe2037Cys
XM_017027545.1:c.5546T>G XP_016883034.1:p.Phe1849Cys
XM_017027546.1:c.3074T>G XP_016883035.1:p.Phe1025Cys
NM_014727.3:c.6110T>G MANE Select NP_055542.1:p.Phe2037Cys