Canonical Allele Identifier: CA6547115
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49040634G>A , CM000674.2:g.49040634G>A GRCh38
NC_000012.11:g.49434417G>A , CM000674.1:g.49434417G>A GRCh37
NC_000012.10:g.47720684G>A NCBI36
NG_027827.1:g.19691C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.7136C>T MANE Select NP_003473.3:p.Ala2379Val
ENST00000301067.12:c.7136C>T MANE Select ENSP00000301067.7:p.Ala2379Val
NM_003482.3:c.7136C>T NP_003473.3:p.Ala2379Val
ENST00000301067.11:c.7136C>T ENSP00000301067.7:p.Ala2379Val
ENST00000683543.2:c.7136C>T ENSP00000506726.1:p.Ala2379Val
ENST00000685166.1:c.7145C>T ENSP00000509386.1:p.Ala2382Val
ENST00000689060.1:c.1155C>T
ENST00000689143.1:c.809C>T ENSP00000509839.1:p.Ala270Val
ENST00000689944.1:c.1245C>T
ENST00000692637.1:c.7133C>T ENSP00000509666.1:p.Ala2378Val
XM_005269162.3:c.7136C>T XP_005269219.1:p.Ala2379Val
XM_005269162.4:c.7136C>T XP_005269219.1:p.Ala2379Val
XM_006719614.2:c.7145C>T XP_006719677.1:p.Ala2382Val
XM_006719614.4:c.7145C>T XP_006719677.1:p.Ala2382Val
XM_006719616.2:c.7133C>T XP_006719679.1:p.Ala2378Val
XM_006719616.3:c.7133C>T XP_006719679.1:p.Ala2378Val
XM_011538770.1:c.7145C>T XP_011537072.1:p.Ala2382Val
XM_011538770.2:c.7145C>T XP_011537072.1:p.Ala2382Val
XM_011538771.1:c.7142C>T XP_011537073.1:p.Ala2381Val
XM_011538771.2:c.7142C>T XP_011537073.1:p.Ala2381Val
XM_011538772.1:c.7136C>T XP_011537074.1:p.Ala2379Val
XM_011538772.2:c.7136C>T XP_011537074.1:p.Ala2379Val
XM_011538773.1:c.7133C>T XP_011537075.1:p.Ala2378Val
XM_011538773.2:c.7133C>T XP_011537075.1:p.Ala2378Val
XM_011538774.1:c.7124C>T XP_011537076.1:p.Ala2375Val
XM_011538774.2:c.7124C>T XP_011537076.1:p.Ala2375Val
XM_011538775.1:c.7145C>T XP_011537077.1:p.Ala2382Val
XM_011538776.1:c.7052C>T XP_011537078.1:p.Ala2351Val
XM_011538776.2:c.7052C>T XP_011537078.1:p.Ala2351Val
XR_001748874.1:n.8454C>T
XR_944740.1:n.9465C>T