Canonical Allele Identifier: CA405425683
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732649T>G , CM000681.2:g.35732649T>G GRCh38
NC_000019.9:g.36223550T>G , CM000681.1:g.36223550T>G GRCh37
NC_000019.8:g.40915390T>G NCBI36
NG_052906.1:g.19631T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.406T>G
ENST00000673918.2:c.6034T>G ENSP00000501283.1:p.Tyr2012Asp
ENST00000674114.2:c.3641T>G ENSP00000501039.2:n.3641T>G
ENST00000684977.1:c.1318T>G ENSP00000509384.1:p.Tyr440Asp
ENST00000689544.1:n.1253T>G
ENST00000691421.1:c.1321T>G ENSP00000508674.1:p.Tyr441Asp
ENST00000691855.1:c.5642T>G
ENST00000692961.1:c.6100T>G ENSP00000509289.1:p.Tyr2034Asp
ENST00000693677.1:c.704+320T>G ENSP00000509779.1:n.704+320T>G
ENST00000420124.4:c.6100T>G MANE Select ENSP00000398837.2:p.Tyr2034Asp
ENST00000673918.1:c.6034T>G ENSP00000501283.1:p.Tyr2012Asp
ENST00000674114.1:c.3422T>G
ENST00000420124.2:c.6100T>G ENSP00000398837.1:p.Tyr2034Asp
NM_014727.2:c.6100T>G NP_055542.1:p.Tyr2034Asp
XM_011527561.1:c.6034T>G XP_011525863.1:p.Tyr2012Asp
XM_011527562.1:c.6100T>G XP_011525864.1:p.Tyr2034Asp
XM_011527563.1:c.5824T>G XP_011525865.1:p.Tyr1942Asp
XM_011527561.2:c.5536T>G XP_011525863.2:p.Tyr1846Asp
XM_011527562.2:c.6100T>G XP_011525864.1:p.Tyr2034Asp
XM_017027544.1:c.6100T>G XP_016883033.1:p.Tyr2034Asp
XM_017027545.1:c.5536T>G XP_016883034.1:p.Tyr1846Asp
XM_017027546.1:c.3064T>G XP_016883035.1:p.Tyr1022Asp
NM_014727.3:c.6100T>G MANE Select NP_055542.1:p.Tyr2034Asp