Canonical Allele Identifier: CA405428198
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732937G>T , CM000681.2:g.35732937G>T GRCh38
NC_000019.9:g.36223838G>T , CM000681.1:g.36223838G>T GRCh37
NC_000019.8:g.40915678G>T NCBI36
NG_052906.1:g.19919G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.694G>T
ENST00000673918.2:c.6322G>T ENSP00000501283.1:p.Gly2108Cys
ENST00000674114.2:c.3929G>T ENSP00000501039.2:n.3929G>T
ENST00000684977.1:c.1606G>T ENSP00000509384.1:p.Gly536Cys
ENST00000689544.1:n.1541G>T
ENST00000691421.1:c.1609G>T ENSP00000508674.1:p.Gly537Cys
ENST00000691855.1:c.5930G>T
ENST00000692961.1:c.6388G>T ENSP00000509289.1:p.Gly2130Cys
ENST00000693677.1:c.704+608G>T ENSP00000509779.1:n.704+608G>T
ENST00000420124.4:c.6388G>T MANE Select ENSP00000398837.2:p.Gly2130Cys
ENST00000673918.1:c.6322G>T ENSP00000501283.1:p.Gly2108Cys
ENST00000674114.1:c.3710G>T
ENST00000420124.2:c.6388G>T ENSP00000398837.1:p.Gly2130Cys
NM_014727.2:c.6388G>T NP_055542.1:p.Gly2130Cys
XM_011527561.1:c.6322G>T XP_011525863.1:p.Gly2108Cys
XM_011527562.1:c.6388G>T XP_011525864.1:p.Gly2130Cys
XM_011527563.1:c.6112G>T XP_011525865.1:p.Gly2038Cys
XM_011527561.2:c.5824G>T XP_011525863.2:p.Gly1942Cys
XM_011527562.2:c.6388G>T XP_011525864.1:p.Gly2130Cys
XM_017027544.1:c.6388G>T XP_016883033.1:p.Gly2130Cys
XM_017027545.1:c.5824G>T XP_016883034.1:p.Gly1942Cys
XM_017027546.1:c.3352G>T XP_016883035.1:p.Gly1118Cys
NM_014727.3:c.6388G>T MANE Select NP_055542.1:p.Gly2130Cys