Canonical Allele Identifier: CA2669583080
Gene: NSD2 HGNC NCBI

Linked Data

gnomAD v4: 4-1980950-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1980952del , CM000666.2:g.1980952del GRCh38
NC_000004.11:g.1982679del , CM000666.1:g.1982679del GRCh37
NC_000004.10:g.1952477del NCBI36
NG_009232.1:g.33282del
NG_009269.1:g.114557del

Transcript Alleles

HGVS Amino-acid Change
ENST00000508803.6:c.*2043del MANE Select ENSP00000423972.1:n.*2043del
ENST00000677559.1:c.*3907del ENSP00000504406.1:n.*3907del
ENST00000677895.1:c.*2043del ENSP00000503076.1:n.*2043del
ENST00000679039.1:n.3331del
ENST00000312087.10:c.*4424del ENSP00000308780.6:n.*4424del
ENST00000353275.9:c.*4291del ENSP00000329167.5:n.*4291del
ENST00000382891.9:c.*2043del ENSP00000372347.5:n.*2043del
ENST00000382892.6:c.*2043del ENSP00000372348.2:n.*2043del
ENST00000382895.7:c.*2043del ENSP00000372351.3:n.*2043del
NM_001042424.2:c.*2043del NP_001035889.1:n.*2043del
NM_133330.2:c.*2043del NP_579877.1:n.*2043del
NM_133331.2:c.*2043del NP_579878.1:n.*2043del
NM_133335.3:c.*2043del NP_579890.1:n.*2043del
XM_005248001.3:c.*2043del XP_005248058.1:n.*2043del
XM_005248002.1:c.*2043del XP_005248059.1:n.*2043del
XM_006713915.2:c.*2043del XP_006713978.1:n.*2043del
XM_011513557.1:c.*2043del XP_011511859.1:n.*2043del
XM_011513558.1:c.*2043del XP_011511860.1:n.*2043del
XM_011513559.1:c.*2043del XP_011511861.1:n.*2043del
XM_011513560.1:c.*2043del XP_011511862.1:n.*2043del
XM_005248001.4:c.*2043del XP_005248058.1:n.*2043del
XM_005248002.3:c.*2043del XP_005248059.1:n.*2043del
XM_011513557.2:c.*2043del XP_011511859.1:n.*2043del
XM_011513560.2:c.*2043del XP_011511862.1:n.*2043del
XM_017008587.1:c.*2043del XP_016864076.1:n.*2043del
XM_017008588.1:c.*2043del XP_016864077.1:n.*2043del
NM_001042424.3:c.*2043del MANE Select NP_001035889.1:n.*2043del
NM_133330.3:c.*2043del NP_579877.1:n.*2043del
NM_133331.3:c.*2043del NP_579878.1:n.*2043del
NM_133335.4:c.*2043del NP_579890.1:n.*2043del