Canonical Allele Identifier: CA2596225000
Gene: KMT2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49039437dup , CM000674.2:g.49039437dup GRCh38
NC_000012.11:g.49433220dup , CM000674.1:g.49433220dup GRCh37
NC_000012.10:g.47719487dup NCBI36
NG_027827.1:g.20888dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000683543.2:c.8227dup ENSP00000506726.1:p.Gln2743ProfsTer26
ENST00000685166.1:c.8236dup ENSP00000509386.1:p.Gln2746ProfsTer26
ENST00000689060.1:c.2246dup
ENST00000689143.1:c.1900dup ENSP00000509839.1:p.Gln634ProfsTer26
ENST00000689944.1:c.2336dup
ENST00000692637.1:c.8224dup ENSP00000509666.1:p.Gln2742ProfsTer26
ENST00000301067.12:c.8227dup MANE Select ENSP00000301067.7:p.Gln2743ProfsTer26
ENST00000301067.11:c.8227dup ENSP00000301067.7:p.Gln2743ProfsTer26
NM_003482.3:c.8227dup NP_003473.3:p.Gln2743ProfsTer26
XM_005269162.3:c.8227dup XP_005269219.1:p.Gln2743ProfsTer26
XM_006719614.2:c.8236dup XP_006719677.1:p.Gln2746ProfsTer26
XM_006719616.2:c.8224dup XP_006719679.1:p.Gln2742ProfsTer26
XM_011538770.1:c.8236dup XP_011537072.1:p.Gln2746ProfsTer26
XM_011538771.1:c.8233dup XP_011537073.1:p.Gln2745ProfsTer26
XM_011538772.1:c.8227dup XP_011537074.1:p.Gln2743ProfsTer26
XM_011538773.1:c.8224dup XP_011537075.1:p.Gln2742ProfsTer26
XM_011538774.1:c.8215dup XP_011537076.1:p.Gln2739ProfsTer26
XM_011538775.1:c.8236dup XP_011537077.1:p.Gln2746ProfsTer26
XM_011538776.1:c.8143dup XP_011537078.1:p.Gln2715ProfsTer26
XR_944740.1:n.10556dup
XM_005269162.4:c.8227dup XP_005269219.1:p.Gln2743ProfsTer26
XM_006719614.4:c.8236dup XP_006719677.1:p.Gln2746ProfsTer26
XM_006719616.3:c.8224dup XP_006719679.1:p.Gln2742ProfsTer26
XM_011538770.2:c.8236dup XP_011537072.1:p.Gln2746ProfsTer26
XM_011538771.2:c.8233dup XP_011537073.1:p.Gln2745ProfsTer26
XM_011538772.2:c.8227dup XP_011537074.1:p.Gln2743ProfsTer26
XM_011538773.2:c.8224dup XP_011537075.1:p.Gln2742ProfsTer26
XM_011538774.2:c.8215dup XP_011537076.1:p.Gln2739ProfsTer26
XM_011538776.2:c.8143dup XP_011537078.1:p.Gln2715ProfsTer26
XR_001748874.1:n.9545dup
NM_003482.4:c.8227dup MANE Select NP_003473.3:p.Gln2743ProfsTer26