Canonical Allele Identifier: CA384740377
Community Standard Title: NM_003482.4(KMT2D):c.8933C>T (p.Pro2978Leu)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49038423G>A , CM000674.2:g.49038423G>A GRCh38
NC_000012.11:g.49432206G>A , CM000674.1:g.49432206G>A GRCh37
NC_000012.10:g.47718473G>A NCBI36
NG_027827.1:g.21902C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.8933C>T MANE Select NP_003473.3:p.Pro2978Leu
ENST00000301067.12:c.8933C>T MANE Select ENSP00000301067.7:p.Pro2978Leu
NM_003482.3:c.8933C>T NP_003473.3:p.Pro2978Leu
ENST00000301067.11:c.8933C>T ENSP00000301067.7:p.Pro2978Leu
ENST00000683043.1:n.632C>T
ENST00000683543.2:c.8933C>T ENSP00000506726.1:p.Pro2978Leu
ENST00000685166.1:c.8942C>T ENSP00000509386.1:p.Pro2981Leu
ENST00000687201.1:c.497C>T ENSP00000510037.1:p.Pro166Leu
ENST00000689143.1:c.2536C>T ENSP00000509839.1:n.2536C>T
ENST00000692637.1:c.8930C>T ENSP00000509666.1:p.Pro2977Leu
ENST00000692841.1:c.497C>T ENSP00000508711.1:p.Pro166Leu
XM_005269162.3:c.8933C>T XP_005269219.1:p.Pro2978Leu
XM_005269162.4:c.8933C>T XP_005269219.1:p.Pro2978Leu
XM_006719614.2:c.8942C>T XP_006719677.1:p.Pro2981Leu
XM_006719614.4:c.8942C>T XP_006719677.1:p.Pro2981Leu
XM_006719616.2:c.8930C>T XP_006719679.1:p.Pro2977Leu
XM_006719616.3:c.8930C>T XP_006719679.1:p.Pro2977Leu
XM_011538770.1:c.8942C>T XP_011537072.1:p.Pro2981Leu
XM_011538770.2:c.8942C>T XP_011537072.1:p.Pro2981Leu
XM_011538771.1:c.8939C>T XP_011537073.1:p.Pro2980Leu
XM_011538771.2:c.8939C>T XP_011537073.1:p.Pro2980Leu
XM_011538772.1:c.8933C>T XP_011537074.1:p.Pro2978Leu
XM_011538772.2:c.8933C>T XP_011537074.1:p.Pro2978Leu
XM_011538773.1:c.8930C>T XP_011537075.1:p.Pro2977Leu
XM_011538773.2:c.8930C>T XP_011537075.1:p.Pro2977Leu
XM_011538774.1:c.8921C>T XP_011537076.1:p.Pro2974Leu
XM_011538774.2:c.8921C>T XP_011537076.1:p.Pro2974Leu
XM_011538775.1:c.8942C>T XP_011537077.1:p.Pro2981Leu
XM_011538776.1:c.8849C>T XP_011537078.1:p.Pro2950Leu
XM_011538776.2:c.8849C>T XP_011537078.1:p.Pro2950Leu
XR_001748874.1:n.10251C>T
XR_944740.1:n.11262C>T