Canonical Allele Identifier: CA405427490
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732827C>G , CM000681.2:g.35732827C>G GRCh38
NC_000019.9:g.36223728C>G , CM000681.1:g.36223728C>G GRCh37
NC_000019.8:g.40915568C>G NCBI36
NG_052906.1:g.19809C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.584C>G
ENST00000673918.2:c.6212C>G ENSP00000501283.1:p.Ala2071Gly
ENST00000674114.2:c.3819C>G ENSP00000501039.2:n.3819C>G
ENST00000684977.1:c.1496C>G ENSP00000509384.1:p.Ala499Gly
ENST00000689544.1:n.1431C>G
ENST00000691421.1:c.1499C>G ENSP00000508674.1:p.Ala500Gly
ENST00000691855.1:c.5820C>G
ENST00000692961.1:c.6278C>G ENSP00000509289.1:p.Ala2093Gly
ENST00000693677.1:c.704+498C>G ENSP00000509779.1:n.704+498C>G
ENST00000420124.4:c.6278C>G MANE Select ENSP00000398837.2:p.Ala2093Gly
ENST00000673918.1:c.6212C>G ENSP00000501283.1:p.Ala2071Gly
ENST00000674114.1:c.3600C>G
ENST00000420124.2:c.6278C>G ENSP00000398837.1:p.Ala2093Gly
NM_014727.2:c.6278C>G NP_055542.1:p.Ala2093Gly
XM_011527561.1:c.6212C>G XP_011525863.1:p.Ala2071Gly
XM_011527562.1:c.6278C>G XP_011525864.1:p.Ala2093Gly
XM_011527563.1:c.6002C>G XP_011525865.1:p.Ala2001Gly
XM_011527561.2:c.5714C>G XP_011525863.2:p.Ala1905Gly
XM_011527562.2:c.6278C>G XP_011525864.1:p.Ala2093Gly
XM_017027544.1:c.6278C>G XP_016883033.1:p.Ala2093Gly
XM_017027545.1:c.5714C>G XP_016883034.1:p.Ala1905Gly
XM_017027546.1:c.3242C>G XP_016883035.1:p.Ala1081Gly
NM_014727.3:c.6278C>G MANE Select NP_055542.1:p.Ala2093Gly