Canonical Allele Identifier: CA160539
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 134687
dbSNP Id: rs587778463

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49041378G>T , CM000674.2:g.49041378G>T GRCh38
NC_000012.11:g.49435161G>T , CM000674.1:g.49435161G>T GRCh37
NC_000012.10:g.47721428G>T NCBI36
NG_027827.1:g.18947C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683543.2:c.6392C>A ENSP00000506726.1:p.Thr2131Asn
ENST00000685166.1:c.6401C>A ENSP00000509386.1:p.Thr2134Asn
ENST00000689060.1:c.411C>A
ENST00000689143.1:c.65C>A ENSP00000509839.1:p.Thr22Asn
ENST00000689944.1:c.501C>A
ENST00000692637.1:c.6389C>A ENSP00000509666.1:p.Thr2130Asn
ENST00000301067.12:c.6392C>A MANE Select ENSP00000301067.7:p.Thr2131Asn
ENST00000301067.11:c.6392C>A ENSP00000301067.7:p.Thr2131Asn
NM_003482.3:c.6392C>A NP_003473.3:p.Thr2131Asn
XM_005269162.3:c.6392C>A XP_005269219.1:p.Thr2131Asn
XM_006719614.2:c.6401C>A XP_006719677.1:p.Thr2134Asn
XM_006719616.2:c.6389C>A XP_006719679.1:p.Thr2130Asn
XM_011538770.1:c.6401C>A XP_011537072.1:p.Thr2134Asn
XM_011538771.1:c.6398C>A XP_011537073.1:p.Thr2133Asn
XM_011538772.1:c.6392C>A XP_011537074.1:p.Thr2131Asn
XM_011538773.1:c.6389C>A XP_011537075.1:p.Thr2130Asn
XM_011538774.1:c.6380C>A XP_011537076.1:p.Thr2127Asn
XM_011538775.1:c.6401C>A XP_011537077.1:p.Thr2134Asn
XM_011538776.1:c.6308C>A XP_011537078.1:p.Thr2103Asn
XR_944740.1:n.8721C>A
XM_005269162.4:c.6392C>A XP_005269219.1:p.Thr2131Asn
XM_006719614.4:c.6401C>A XP_006719677.1:p.Thr2134Asn
XM_006719616.3:c.6389C>A XP_006719679.1:p.Thr2130Asn
XM_011538770.2:c.6401C>A XP_011537072.1:p.Thr2134Asn
XM_011538771.2:c.6398C>A XP_011537073.1:p.Thr2133Asn
XM_011538772.2:c.6392C>A XP_011537074.1:p.Thr2131Asn
XM_011538773.2:c.6389C>A XP_011537075.1:p.Thr2130Asn
XM_011538774.2:c.6380C>A XP_011537076.1:p.Thr2127Asn
XM_011538776.2:c.6308C>A XP_011537078.1:p.Thr2103Asn
XR_001748874.1:n.7710C>A
NM_003482.4:c.6392C>A MANE Select NP_003473.3:p.Thr2131Asn