Canonical Allele Identifier: CA405428860
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733043G>A , CM000681.2:g.35733043G>A GRCh38
NC_000019.9:g.36223944G>A , CM000681.1:g.36223944G>A GRCh37
NC_000019.8:g.40915784G>A NCBI36
NG_052906.1:g.20025G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.800G>A
ENST00000673918.2:c.6428G>A ENSP00000501283.1:p.Trp2143Ter
ENST00000674114.2:c.4035G>A ENSP00000501039.2:n.4035G>A
ENST00000684977.1:c.1712G>A ENSP00000509384.1:p.Trp571Ter
ENST00000689544.1:n.1647G>A
ENST00000691421.1:c.1715G>A ENSP00000508674.1:p.Trp572Ter
ENST00000691855.1:c.6036G>A
ENST00000692961.1:c.6494G>A ENSP00000509289.1:p.Trp2165Ter
ENST00000693677.1:c.705-554G>A ENSP00000509779.1:n.705-554G>A
ENST00000420124.4:c.6494G>A MANE Select ENSP00000398837.2:p.Trp2165Ter
ENST00000673918.1:c.6428G>A ENSP00000501283.1:p.Trp2143Ter
ENST00000674114.1:c.3816G>A
ENST00000420124.2:c.6494G>A ENSP00000398837.1:p.Trp2165Ter
NM_014727.2:c.6494G>A NP_055542.1:p.Trp2165Ter
XM_011527561.1:c.6428G>A XP_011525863.1:p.Trp2143Ter
XM_011527562.1:c.6494G>A XP_011525864.1:p.Trp2165Ter
XM_011527563.1:c.6218G>A XP_011525865.1:p.Trp2073Ter
XM_011527561.2:c.5930G>A XP_011525863.2:p.Trp1977Ter
XM_011527562.2:c.6494G>A XP_011525864.1:p.Trp2165Ter
XM_017027544.1:c.6494G>A XP_016883033.1:p.Trp2165Ter
XM_017027545.1:c.5930G>A XP_016883034.1:p.Trp1977Ter
XM_017027546.1:c.3458G>A XP_016883035.1:p.Trp1153Ter
NM_014727.3:c.6494G>A MANE Select NP_055542.1:p.Trp2165Ter