Canonical Allele Identifier: CA405425038
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732541C>G , CM000681.2:g.35732541C>G GRCh38
NC_000019.9:g.36223442C>G , CM000681.1:g.36223442C>G GRCh37
NC_000019.8:g.40915282C>G NCBI36
NG_052906.1:g.19523C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.298C>G
ENST00000673918.2:c.5926C>G ENSP00000501283.1:p.Leu1976Val
ENST00000674114.2:c.3533C>G ENSP00000501039.2:n.3533C>G
ENST00000684977.1:c.1210C>G ENSP00000509384.1:p.Leu404Val
ENST00000689544.1:n.1145C>G
ENST00000691421.1:c.1213C>G ENSP00000508674.1:p.Leu405Val
ENST00000691855.1:c.5534C>G
ENST00000692961.1:c.5992C>G ENSP00000509289.1:p.Leu1998Val
ENST00000693677.1:c.704+212C>G ENSP00000509779.1:n.704+212C>G
ENST00000420124.4:c.5992C>G MANE Select ENSP00000398837.2:p.Leu1998Val
ENST00000673918.1:c.5926C>G ENSP00000501283.1:p.Leu1976Val
ENST00000674114.1:c.3314C>G
ENST00000420124.2:c.5992C>G ENSP00000398837.1:p.Leu1998Val
NM_014727.2:c.5992C>G NP_055542.1:p.Leu1998Val
XM_011527561.1:c.5926C>G XP_011525863.1:p.Leu1976Val
XM_011527562.1:c.5992C>G XP_011525864.1:p.Leu1998Val
XM_011527563.1:c.5716C>G XP_011525865.1:p.Leu1906Val
XM_011527561.2:c.5428C>G XP_011525863.2:p.Leu1810Val
XM_011527562.2:c.5992C>G XP_011525864.1:p.Leu1998Val
XM_017027544.1:c.5992C>G XP_016883033.1:p.Leu1998Val
XM_017027545.1:c.5428C>G XP_016883034.1:p.Leu1810Val
XM_017027546.1:c.2956C>G XP_016883035.1:p.Leu986Val
NM_014727.3:c.5992C>G MANE Select NP_055542.1:p.Leu1998Val