Canonical Allele Identifier: CA10620759

Gene: NSD2

Linked Data

• ClinVar Variation Id: 348485
• ClinVar RCV Id: RCV000386134
• dbSNP Id: rs886059331
• gnomAD v2: 4-1982557-C-CT
• gnomAD v3: 4-1980830-C-CT
• gnomAD v4: 4-1980830-C-CT
• MyVariant Identifiers: chr4:g.1982558dupT (hg19) ; chr4:g.1982557_1982558insT (hg19) ; chr4:g.1980831dupT (hg38) ; chr4:g.1980830_1980831insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1980831dup , CM000666.2:g.1980831dup	GRCh38
NC_000004.11:g.1982558dup , CM000666.1:g.1982558dup	GRCh37
NC_000004.10:g.1952356dup	NCBI36
NG_009232.1:g.33402dup
NG_009269.1:g.114436dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000508803.6:c.*1922dup MANE Select	ENSP00000423972.1:n.*1922dup
ENST00000677559.1:c.*3786dup	ENSP00000504406.1:n.*3786dup
ENST00000677895.1:c.*1922dup	ENSP00000503076.1:n.*1922dup
ENST00000679039.1:n.3210dup
ENST00000312087.10:c.*4303dup	ENSP00000308780.6:n.*4303dup
ENST00000353275.9:c.*4170dup	ENSP00000329167.5:n.*4170dup
ENST00000382891.9:c.*1922dup	ENSP00000372347.5:n.*1922dup
ENST00000382892.6:c.*1922dup	ENSP00000372348.2:n.*1922dup
ENST00000382895.7:c.*1922dup	ENSP00000372351.3:n.*1922dup
NM_001042424.2:c.*1922dup	NP_001035889.1:n.*1922dup
NM_133330.2:c.*1922dup	NP_579877.1:n.*1922dup
NM_133331.2:c.*1922dup	NP_579878.1:n.*1922dup
NM_133335.3:c.*1922dup	NP_579890.1:n.*1922dup
XM_005248001.3:c.*1922dup	XP_005248058.1:n.*1922dup
XM_005248002.1:c.*1922dup	XP_005248059.1:n.*1922dup
XM_006713915.2:c.*1922dup	XP_006713978.1:n.*1922dup
XM_011513557.1:c.*1922dup	XP_011511859.1:n.*1922dup
XM_011513558.1:c.*1922dup	XP_011511860.1:n.*1922dup
XM_011513559.1:c.*1922dup	XP_011511861.1:n.*1922dup
XM_011513560.1:c.*1922dup	XP_011511862.1:n.*1922dup
XM_005248001.4:c.*1922dup	XP_005248058.1:n.*1922dup
XM_005248002.3:c.*1922dup	XP_005248059.1:n.*1922dup
XM_011513557.2:c.*1922dup	XP_011511859.1:n.*1922dup
XM_011513560.2:c.*1922dup	XP_011511862.1:n.*1922dup
XM_017008587.1:c.*1922dup	XP_016864076.1:n.*1922dup
XM_017008588.1:c.*1922dup	XP_016864077.1:n.*1922dup
NM_001042424.3:c.*1922dup MANE Select	NP_001035889.1:n.*1922dup
NM_133330.3:c.*1922dup	NP_579877.1:n.*1922dup
NM_133331.3:c.*1922dup	NP_579878.1:n.*1922dup
NM_133335.4:c.*1922dup	NP_579890.1:n.*1922dup