Canonical Allele Identifier: CA384703373
Gene: KMT2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030948A>G , CM000674.2:g.49030948A>G GRCh38
NC_000012.11:g.49424731A>G , CM000674.1:g.49424731A>G GRCh37
NC_000012.10:g.47710998A>G NCBI36
NG_027827.1:g.29377T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000552391.2:n.316T>C
ENST00000683543.2:c.13616T>C ENSP00000506726.1:p.Leu4539Pro
ENST00000685166.1:c.13625T>C ENSP00000509386.1:p.Leu4542Pro
ENST00000685982.1:c.139-180T>C ENSP00000508613.1:n.139-180T>C
ENST00000691986.1:c.138+227T>C ENSP00000509196.1:n.138+227T>C
ENST00000692637.1:c.13613T>C ENSP00000509666.1:p.Leu4538Pro
ENST00000692973.1:c.217T>C ENSP00000508893.1:n.217T>C
ENST00000301067.12:c.13616T>C MANE Select ENSP00000301067.7:p.Leu4539Pro
ENST00000301067.11:c.13616T>C ENSP00000301067.7:p.Leu4539Pro
ENST00000552391.1:n.316T>C
NM_003482.3:c.13616T>C NP_003473.3:p.Leu4539Pro
XM_005269162.3:c.13616T>C XP_005269219.1:p.Leu4539Pro
XM_006719614.2:c.13625T>C XP_006719677.1:p.Leu4542Pro
XM_006719616.2:c.13613T>C XP_006719679.1:p.Leu4538Pro
XM_011538770.1:c.13625T>C XP_011537072.1:p.Leu4542Pro
XM_011538771.1:c.13622T>C XP_011537073.1:p.Leu4541Pro
XM_011538772.1:c.13616T>C XP_011537074.1:p.Leu4539Pro
XM_011538773.1:c.13613T>C XP_011537075.1:p.Leu4538Pro
XM_011538774.1:c.13604T>C XP_011537076.1:p.Leu4535Pro
XM_011538775.1:c.13625T>C XP_011537077.1:p.Leu4542Pro
XM_011538776.1:c.13532T>C XP_011537078.1:p.Leu4511Pro
XR_944740.1:n.15945T>C
XM_005269162.4:c.13616T>C XP_005269219.1:p.Leu4539Pro
XM_006719614.4:c.13625T>C XP_006719677.1:p.Leu4542Pro
XM_006719616.3:c.13613T>C XP_006719679.1:p.Leu4538Pro
XM_011538770.2:c.13625T>C XP_011537072.1:p.Leu4542Pro
XM_011538771.2:c.13622T>C XP_011537073.1:p.Leu4541Pro
XM_011538772.2:c.13616T>C XP_011537074.1:p.Leu4539Pro
XM_011538773.2:c.13613T>C XP_011537075.1:p.Leu4538Pro
XM_011538774.2:c.13604T>C XP_011537076.1:p.Leu4535Pro
XM_011538776.2:c.13532T>C XP_011537078.1:p.Leu4511Pro
XR_001748874.1:n.14934T>C
NM_003482.4:c.13616T>C MANE Select NP_003473.3:p.Leu4539Pro