Canonical Allele Identifier: CA405427585
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732844G>T , CM000681.2:g.35732844G>T GRCh38
NC_000019.9:g.36223745G>T , CM000681.1:g.36223745G>T GRCh37
NC_000019.8:g.40915585G>T NCBI36
NG_052906.1:g.19826G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.601G>T
ENST00000673918.2:c.6229G>T ENSP00000501283.1:p.Ala2077Ser
ENST00000674114.2:c.3836G>T ENSP00000501039.2:n.3836G>T
ENST00000684977.1:c.1513G>T ENSP00000509384.1:p.Ala505Ser
ENST00000689544.1:n.1448G>T
ENST00000691421.1:c.1516G>T ENSP00000508674.1:p.Ala506Ser
ENST00000691855.1:c.5837G>T
ENST00000692961.1:c.6295G>T ENSP00000509289.1:p.Ala2099Ser
ENST00000693677.1:c.704+515G>T ENSP00000509779.1:n.704+515G>T
ENST00000420124.4:c.6295G>T MANE Select ENSP00000398837.2:p.Ala2099Ser
ENST00000673918.1:c.6229G>T ENSP00000501283.1:p.Ala2077Ser
ENST00000674114.1:c.3617G>T
ENST00000420124.2:c.6295G>T ENSP00000398837.1:p.Ala2099Ser
NM_014727.2:c.6295G>T NP_055542.1:p.Ala2099Ser
XM_011527561.1:c.6229G>T XP_011525863.1:p.Ala2077Ser
XM_011527562.1:c.6295G>T XP_011525864.1:p.Ala2099Ser
XM_011527563.1:c.6019G>T XP_011525865.1:p.Ala2007Ser
XM_011527561.2:c.5731G>T XP_011525863.2:p.Ala1911Ser
XM_011527562.2:c.6295G>T XP_011525864.1:p.Ala2099Ser
XM_017027544.1:c.6295G>T XP_016883033.1:p.Ala2099Ser
XM_017027545.1:c.5731G>T XP_016883034.1:p.Ala1911Ser
XM_017027546.1:c.3259G>T XP_016883035.1:p.Ala1087Ser
NM_014727.3:c.6295G>T MANE Select NP_055542.1:p.Ala2099Ser