Canonical Allele Identifier: CA405424562
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732467T>A , CM000681.2:g.35732467T>A GRCh38
NC_000019.9:g.36223368T>A , CM000681.1:g.36223368T>A GRCh37
NC_000019.8:g.40915208T>A NCBI36
NG_052906.1:g.19449T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.224T>A
ENST00000673918.2:c.5852T>A ENSP00000501283.1:p.Leu1951Gln
ENST00000674114.2:c.3459T>A ENSP00000501039.2:n.3459T>A
ENST00000684977.1:c.1136T>A ENSP00000509384.1:p.Leu379Gln
ENST00000689544.1:n.1071T>A
ENST00000691421.1:c.1139T>A ENSP00000508674.1:p.Leu380Gln
ENST00000691855.1:c.5460T>A
ENST00000692961.1:c.5918T>A ENSP00000509289.1:p.Leu1973Gln
ENST00000693677.1:c.704+138T>A ENSP00000509779.1:n.704+138T>A
ENST00000420124.4:c.5918T>A MANE Select ENSP00000398837.2:p.Leu1973Gln
ENST00000673918.1:c.5852T>A ENSP00000501283.1:p.Leu1951Gln
ENST00000674114.1:c.3240T>A
ENST00000420124.2:c.5918T>A ENSP00000398837.1:p.Leu1973Gln
NM_014727.2:c.5918T>A NP_055542.1:p.Leu1973Gln
XM_011527561.1:c.5852T>A XP_011525863.1:p.Leu1951Gln
XM_011527562.1:c.5918T>A XP_011525864.1:p.Leu1973Gln
XM_011527563.1:c.5642T>A XP_011525865.1:p.Leu1881Gln
XM_011527561.2:c.5354T>A XP_011525863.2:p.Leu1785Gln
XM_011527562.2:c.5918T>A XP_011525864.1:p.Leu1973Gln
XM_017027544.1:c.5918T>A XP_016883033.1:p.Leu1973Gln
XM_017027545.1:c.5354T>A XP_016883034.1:p.Leu1785Gln
XM_017027546.1:c.2882T>A XP_016883035.1:p.Leu961Gln
NM_014727.3:c.5918T>A MANE Select NP_055542.1:p.Leu1973Gln