Canonical Allele Identifier: CA234172
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 167222
dbSNP Id: rs727503983

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49038868G>A , CM000674.2:g.49038868G>A GRCh38
NC_000012.11:g.49432651G>A , CM000674.1:g.49432651G>A GRCh37
NC_000012.10:g.47718918G>A NCBI36
NG_027827.1:g.21457C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683043.1:n.187C>T
ENST00000683543.2:c.8488C>T ENSP00000506726.1:p.Arg2830Ter
ENST00000685166.1:c.8497C>T ENSP00000509386.1:p.Arg2833Ter
ENST00000687201.1:c.52C>T ENSP00000510037.1:p.Arg18Ter
ENST00000689143.1:c.2091C>T ENSP00000509839.1:p.Cys697=
ENST00000692637.1:c.8485C>T ENSP00000509666.1:p.Arg2829Ter
ENST00000692841.1:c.52C>T ENSP00000508711.1:p.Arg18Ter
ENST00000301067.12:c.8488C>T MANE Select ENSP00000301067.7:p.Arg2830Ter
ENST00000301067.11:c.8488C>T ENSP00000301067.7:p.Arg2830Ter
ENST00000549799.1:n.130C>T
NM_003482.3:c.8488C>T NP_003473.3:p.Arg2830Ter
XM_005269162.3:c.8488C>T XP_005269219.1:p.Arg2830Ter
XM_006719614.2:c.8497C>T XP_006719677.1:p.Arg2833Ter
XM_006719616.2:c.8485C>T XP_006719679.1:p.Arg2829Ter
XM_011538770.1:c.8497C>T XP_011537072.1:p.Arg2833Ter
XM_011538771.1:c.8494C>T XP_011537073.1:p.Arg2832Ter
XM_011538772.1:c.8488C>T XP_011537074.1:p.Arg2830Ter
XM_011538773.1:c.8485C>T XP_011537075.1:p.Arg2829Ter
XM_011538774.1:c.8476C>T XP_011537076.1:p.Arg2826Ter
XM_011538775.1:c.8497C>T XP_011537077.1:p.Arg2833Ter
XM_011538776.1:c.8404C>T XP_011537078.1:p.Arg2802Ter
XR_944740.1:n.10817C>T
XM_005269162.4:c.8488C>T XP_005269219.1:p.Arg2830Ter
XM_006719614.4:c.8497C>T XP_006719677.1:p.Arg2833Ter
XM_006719616.3:c.8485C>T XP_006719679.1:p.Arg2829Ter
XM_011538770.2:c.8497C>T XP_011537072.1:p.Arg2833Ter
XM_011538771.2:c.8494C>T XP_011537073.1:p.Arg2832Ter
XM_011538772.2:c.8488C>T XP_011537074.1:p.Arg2830Ter
XM_011538773.2:c.8485C>T XP_011537075.1:p.Arg2829Ter
XM_011538774.2:c.8476C>T XP_011537076.1:p.Arg2826Ter
XM_011538776.2:c.8404C>T XP_011537078.1:p.Arg2802Ter
XR_001748874.1:n.9806C>T
NM_003482.4:c.8488C>T MANE Select NP_003473.3:p.Arg2830Ter