Canonical Allele Identifier: CA405428560
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732997C>T , CM000681.2:g.35732997C>T GRCh38
NC_000019.9:g.36223898C>T , CM000681.1:g.36223898C>T GRCh37
NC_000019.8:g.40915738C>T NCBI36
NG_052906.1:g.19979C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.754C>T
ENST00000673918.2:c.6382C>T ENSP00000501283.1:p.Gln2128Ter
ENST00000674114.2:c.3989C>T ENSP00000501039.2:n.3989C>T
ENST00000684977.1:c.1666C>T ENSP00000509384.1:p.Gln556Ter
ENST00000689544.1:n.1601C>T
ENST00000691421.1:c.1669C>T ENSP00000508674.1:p.Gln557Ter
ENST00000691855.1:c.5990C>T
ENST00000692961.1:c.6448C>T ENSP00000509289.1:p.Gln2150Ter
ENST00000693677.1:c.705-600C>T ENSP00000509779.1:n.705-600C>T
ENST00000420124.4:c.6448C>T MANE Select ENSP00000398837.2:p.Gln2150Ter
ENST00000673918.1:c.6382C>T ENSP00000501283.1:p.Gln2128Ter
ENST00000674114.1:c.3770C>T
ENST00000420124.2:c.6448C>T ENSP00000398837.1:p.Gln2150Ter
NM_014727.2:c.6448C>T NP_055542.1:p.Gln2150Ter
XM_011527561.1:c.6382C>T XP_011525863.1:p.Gln2128Ter
XM_011527562.1:c.6448C>T XP_011525864.1:p.Gln2150Ter
XM_011527563.1:c.6172C>T XP_011525865.1:p.Gln2058Ter
XM_011527561.2:c.5884C>T XP_011525863.2:p.Gln1962Ter
XM_011527562.2:c.6448C>T XP_011525864.1:p.Gln2150Ter
XM_017027544.1:c.6448C>T XP_016883033.1:p.Gln2150Ter
XM_017027545.1:c.5884C>T XP_016883034.1:p.Gln1962Ter
XM_017027546.1:c.3412C>T XP_016883035.1:p.Gln1138Ter
NM_014727.3:c.6448C>T MANE Select NP_055542.1:p.Gln2150Ter