Canonical Allele Identifier: CA356001740
Gene: NSD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1975366C>T , CM000666.2:g.1975366C>T GRCh38
NC_000004.11:g.1977093C>T , CM000666.1:g.1977093C>T GRCh37
NC_000004.10:g.1946891C>T NCBI36
NG_009269.1:g.108971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000508803.6:c.3587C>T MANE Select ENSP00000423972.1:p.Ser1196Phe
ENST00000677559.1:c.*1353C>T ENSP00000504406.1:n.*1353C>T
ENST00000677895.1:c.299C>T ENSP00000503076.1:p.Ser100Phe
ENST00000679039.1:n.777C>T
ENST00000312087.10:c.*1870C>T ENSP00000308780.6:n.*1870C>T
ENST00000353275.9:c.*1737C>T ENSP00000329167.5:n.*1737C>T
ENST00000382888.3:c.1631C>T ENSP00000372344.3:p.Ser544Phe
ENST00000382891.9:c.3587C>T ENSP00000372347.5:p.Ser1196Phe
ENST00000382892.6:c.3587C>T ENSP00000372348.2:p.Ser1196Phe
ENST00000382895.7:c.3587C>T ENSP00000372351.3:p.Ser1196Phe
ENST00000482415.6:n.2204C>T
ENST00000508803.5:c.3587C>T ENSP00000423972.1:p.Ser1196Phe
ENST00000515695.1:n.291C>T
NM_001042424.2:c.3587C>T NP_001035889.1:p.Ser1196Phe
NM_133330.2:c.3587C>T NP_579877.1:p.Ser1196Phe
NM_133331.2:c.3587C>T NP_579878.1:p.Ser1196Phe
NM_133335.3:c.3587C>T NP_579890.1:p.Ser1196Phe
XM_005248001.3:c.3587C>T XP_005248058.1:p.Ser1196Phe
XM_005248002.1:c.3380C>T XP_005248059.1:p.Ser1127Phe
XM_006713915.2:c.1244C>T XP_006713978.1:p.Ser415Phe
XM_011513557.1:c.3587C>T XP_011511859.1:p.Ser1196Phe
XM_011513558.1:c.3587C>T XP_011511860.1:p.Ser1196Phe
XM_011513559.1:c.1631C>T XP_011511861.1:p.Ser544Phe
XM_011513560.1:c.1244C>T XP_011511862.1:p.Ser415Phe
XM_005248001.4:c.3587C>T XP_005248058.1:p.Ser1196Phe
XM_005248002.3:c.3380C>T XP_005248059.1:p.Ser1127Phe
XM_011513557.2:c.3587C>T XP_011511859.1:p.Ser1196Phe
XM_011513560.2:c.1244C>T XP_011511862.1:p.Ser415Phe
XM_017008587.1:c.1244C>T XP_016864076.1:p.Ser415Phe
XM_017008588.1:c.1244C>T XP_016864077.1:p.Ser415Phe
NM_001042424.3:c.3587C>T MANE Select NP_001035889.1:p.Ser1196Phe
NM_133330.3:c.3587C>T NP_579877.1:p.Ser1196Phe
NM_133331.3:c.3587C>T NP_579878.1:p.Ser1196Phe
NM_133335.4:c.3587C>T NP_579890.1:p.Ser1196Phe