Canonical Allele Identifier: CA405426043
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732755A>G , CM000681.2:g.35732755A>G GRCh38
NC_000019.9:g.36223656A>G , CM000681.1:g.36223656A>G GRCh37
NC_000019.8:g.40915496A>G NCBI36
NG_052906.1:g.19737A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.512A>G
ENST00000673918.2:c.6140A>G ENSP00000501283.1:p.Asp2047Gly
ENST00000674114.2:c.3747A>G ENSP00000501039.2:n.3747A>G
ENST00000684977.1:c.1424A>G ENSP00000509384.1:p.Asp475Gly
ENST00000689544.1:n.1359A>G
ENST00000691421.1:c.1427A>G ENSP00000508674.1:p.Asp476Gly
ENST00000691855.1:c.5748A>G
ENST00000692961.1:c.6206A>G ENSP00000509289.1:p.Asp2069Gly
ENST00000693677.1:c.704+426A>G ENSP00000509779.1:n.704+426A>G
ENST00000420124.4:c.6206A>G MANE Select ENSP00000398837.2:p.Asp2069Gly
ENST00000673918.1:c.6140A>G ENSP00000501283.1:p.Asp2047Gly
ENST00000674114.1:c.3528A>G
ENST00000420124.2:c.6206A>G ENSP00000398837.1:p.Asp2069Gly
NM_014727.2:c.6206A>G NP_055542.1:p.Asp2069Gly
XM_011527561.1:c.6140A>G XP_011525863.1:p.Asp2047Gly
XM_011527562.1:c.6206A>G XP_011525864.1:p.Asp2069Gly
XM_011527563.1:c.5930A>G XP_011525865.1:p.Asp1977Gly
XM_011527561.2:c.5642A>G XP_011525863.2:p.Asp1881Gly
XM_011527562.2:c.6206A>G XP_011525864.1:p.Asp2069Gly
XM_017027544.1:c.6206A>G XP_016883033.1:p.Asp2069Gly
XM_017027545.1:c.5642A>G XP_016883034.1:p.Asp1881Gly
XM_017027546.1:c.3170A>G XP_016883035.1:p.Asp1057Gly
NM_014727.3:c.6206A>G MANE Select NP_055542.1:p.Asp2069Gly