Canonical Allele Identifier: CA384685275
Community Standard Title: NM_003482.4(KMT2D):c.15730A>T (p.Lys5244Ter)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49026236T>A , CM000674.2:g.49026236T>A GRCh38
NC_000012.11:g.49420019T>A , CM000674.1:g.49420019T>A GRCh37
NC_000012.10:g.47706286T>A NCBI36
NG_027827.1:g.34089A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.15730A>T MANE Select NP_003473.3:p.Lys5244Ter
ENST00000301067.12:c.15730A>T MANE Select ENSP00000301067.7:p.Lys5244Ter
NM_003482.3:c.15730A>T NP_003473.3:p.Lys5244Ter
ENST00000301067.11:c.15730A>T ENSP00000301067.7:p.Lys5244Ter
ENST00000683543.2:c.15730A>T ENSP00000506726.1:p.Lys5244Ter
ENST00000683863.1:n.210A>T
ENST00000684428.1:c.265A>T ENSP00000507433.1:p.Lys89Ter
ENST00000684755.1:n.265A>T
ENST00000685024.1:c.855A>T
ENST00000685166.1:c.15739A>T ENSP00000509386.1:p.Lys5247Ter
ENST00000688411.1:c.262-1290A>T ENSP00000510146.1:n.262-1290A>T
ENST00000691463.1:c.1116A>T ENSP00000510624.1:n.1116A>T
ENST00000692637.1:c.15727A>T ENSP00000509666.1:p.Lys5243Ter
XM_005269162.3:c.15730A>T XP_005269219.1:p.Lys5244Ter
XM_005269162.4:c.15730A>T XP_005269219.1:p.Lys5244Ter
XM_006719614.2:c.15739A>T XP_006719677.1:p.Lys5247Ter
XM_006719614.4:c.15739A>T XP_006719677.1:p.Lys5247Ter
XM_006719616.2:c.15727A>T XP_006719679.1:p.Lys5243Ter
XM_006719616.3:c.15727A>T XP_006719679.1:p.Lys5243Ter
XM_011538770.1:c.15739A>T XP_011537072.1:p.Lys5247Ter
XM_011538770.2:c.15739A>T XP_011537072.1:p.Lys5247Ter
XM_011538771.1:c.15736A>T XP_011537073.1:p.Lys5246Ter
XM_011538771.2:c.15736A>T XP_011537073.1:p.Lys5246Ter
XM_011538772.1:c.15730A>T XP_011537074.1:p.Lys5244Ter
XM_011538772.2:c.15730A>T XP_011537074.1:p.Lys5244Ter
XM_011538773.1:c.15727A>T XP_011537075.1:p.Lys5243Ter
XM_011538773.2:c.15727A>T XP_011537075.1:p.Lys5243Ter
XM_011538774.1:c.15718A>T XP_011537076.1:p.Lys5240Ter
XM_011538774.2:c.15718A>T XP_011537076.1:p.Lys5240Ter
XM_011538775.1:c.15673A>T XP_011537077.1:p.Lys5225Ter
XM_011538776.1:c.15646A>T XP_011537078.1:p.Lys5216Ter
XM_011538776.2:c.15646A>T XP_011537078.1:p.Lys5216Ter
XR_001748874.1:n.15962-1290A>T
XR_944740.1:n.16973-1290A>T