Canonical Allele Identifier: CA384741774
Community Standard Title: NM_003482.4(KMT2D):c.8564C>T (p.Ala2855Val)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49038792G>A , CM000674.2:g.49038792G>A GRCh38
NC_000012.11:g.49432575G>A , CM000674.1:g.49432575G>A GRCh37
NC_000012.10:g.47718842G>A NCBI36
NG_027827.1:g.21533C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.8564C>T MANE Select NP_003473.3:p.Ala2855Val
ENST00000301067.12:c.8564C>T MANE Select ENSP00000301067.7:p.Ala2855Val
NM_003482.3:c.8564C>T NP_003473.3:p.Ala2855Val
ENST00000301067.11:c.8564C>T ENSP00000301067.7:p.Ala2855Val
ENST00000549799.1:n.206C>T
ENST00000683043.1:n.263C>T
ENST00000683543.2:c.8564C>T ENSP00000506726.1:p.Ala2855Val
ENST00000685166.1:c.8573C>T ENSP00000509386.1:p.Ala2858Val
ENST00000687201.1:c.128C>T ENSP00000510037.1:p.Ala43Val
ENST00000689143.1:c.2167C>T ENSP00000509839.1:n.2167C>T
ENST00000692637.1:c.8561C>T ENSP00000509666.1:p.Ala2854Val
ENST00000692841.1:c.128C>T ENSP00000508711.1:p.Ala43Val
XM_005269162.3:c.8564C>T XP_005269219.1:p.Ala2855Val
XM_005269162.4:c.8564C>T XP_005269219.1:p.Ala2855Val
XM_006719614.2:c.8573C>T XP_006719677.1:p.Ala2858Val
XM_006719614.4:c.8573C>T XP_006719677.1:p.Ala2858Val
XM_006719616.2:c.8561C>T XP_006719679.1:p.Ala2854Val
XM_006719616.3:c.8561C>T XP_006719679.1:p.Ala2854Val
XM_011538770.1:c.8573C>T XP_011537072.1:p.Ala2858Val
XM_011538770.2:c.8573C>T XP_011537072.1:p.Ala2858Val
XM_011538771.1:c.8570C>T XP_011537073.1:p.Ala2857Val
XM_011538771.2:c.8570C>T XP_011537073.1:p.Ala2857Val
XM_011538772.1:c.8564C>T XP_011537074.1:p.Ala2855Val
XM_011538772.2:c.8564C>T XP_011537074.1:p.Ala2855Val
XM_011538773.1:c.8561C>T XP_011537075.1:p.Ala2854Val
XM_011538773.2:c.8561C>T XP_011537075.1:p.Ala2854Val
XM_011538774.1:c.8552C>T XP_011537076.1:p.Ala2851Val
XM_011538774.2:c.8552C>T XP_011537076.1:p.Ala2851Val
XM_011538775.1:c.8573C>T XP_011537077.1:p.Ala2858Val
XM_011538776.1:c.8480C>T XP_011537078.1:p.Ala2827Val
XM_011538776.2:c.8480C>T XP_011537078.1:p.Ala2827Val
XR_001748874.1:n.9882C>T
XR_944740.1:n.10893C>T