Canonical Allele Identifier: CA405439832
Gene: KMT2B HGNC NCBI

Linked Data

MutSpliceDB: CA405439832

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35738192G>T , CM000681.2:g.35738192G>T GRCh38
NC_000019.9:g.36229093G>T , CM000681.1:g.36229093G>T GRCh37
NC_000019.8:g.40920933G>T NCBI36
NG_052906.1:g.25174G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.2342+1G>T
ENST00000673918.2:c.7806+1G>T ENSP00000501283.1:n.7806+1G>T
ENST00000674114.2:c.5413+1G>T ENSP00000501039.2:n.5413+1G>T
ENST00000686920.1:c.222-90G>T
ENST00000689544.1:n.3113+1G>T
ENST00000691855.1:c.7414+1G>T
ENST00000692961.1:c.*557+1G>T ENSP00000509289.1:n.*557+1G>T
ENST00000693161.1:c.535+1G>T
ENST00000693175.1:c.921+1G>T
ENST00000693677.1:c.1617+1G>T ENSP00000509779.1:n.1617+1G>T
ENST00000420124.4:c.7872+1G>T MANE Select ENSP00000398837.2:n.7872+1G>T
ENST00000673918.1:c.7806+1G>T ENSP00000501283.1:n.7806+1G>T
ENST00000674101.1:c.760+1G>T
ENST00000674114.1:c.5194+1G>T
ENST00000420124.2:c.7872+1G>T ENSP00000398837.1:n.7872+1G>T
ENST00000585476.5:n.2267+1G>T
ENST00000586308.1:n.490+1G>T
NM_014727.2:c.7872+1G>T NP_055542.1:n.7872+1G>T
XM_011527561.1:c.7806+1G>T XP_011525863.1:n.7806+1G>T
XM_011527562.1:c.*32+1G>T XP_011525864.1:n.*32+1G>T
XM_011527563.1:c.7596+1G>T XP_011525865.1:n.7596+1G>T
XM_011527561.2:c.7308+1G>T XP_011525863.2:n.7308+1G>T
XM_011527562.2:c.*32+1G>T XP_011525864.1:n.*32+1G>T
XM_017027544.1:c.7782+1G>T XP_016883033.1:n.7782+1G>T
XM_017027545.1:c.7308+1G>T XP_016883034.1:n.7308+1G>T
XM_017027546.1:c.4836+1G>T XP_016883035.1:n.4836+1G>T
NM_014727.3:c.7872+1G>T MANE Select NP_055542.1:n.7872+1G>T