Canonical Allele Identifier: CA10617601

Gene: NSD2

Linked Data

• ClinVar Variation Id: 348458
• ClinVar RCV Id: RCV000317385
• dbSNP Id: rs375129793
• gnomAD v2: 4-1980974-TCTC-T
• gnomAD v3: 4-1979247-TCTC-T
• gnomAD v4: 4-1979247-TCTC-T
• MyVariant Identifiers: chr4:g.1980978_1980980del (hg19) ; chr4:g.1980975_1980977del (hg19) ; chr4:g.1979251_1979253del (hg38) ; chr4:g.1979248_1979250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1979251_1979253del , CM000666.2:g.1979251_1979253del	GRCh38
NC_000004.11:g.1980978_1980980del , CM000666.1:g.1980978_1980980del	GRCh37
NC_000004.10:g.1950776_1950778del	NCBI36
NG_009269.1:g.112856_112858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508803.6:c.*342_*344del MANE Select	ENSP00000423972.1:n.*342_*344del
ENST00000677559.1:c.*2206_*2208del	ENSP00000504406.1:n.*2206_*2208del
ENST00000677895.1:c.*342_*344del	ENSP00000503076.1:n.*342_*344del
ENST00000679039.1:n.1630_1632del
ENST00000312087.10:c.*2723_*2725del	ENSP00000308780.6:n.*2723_*2725del
ENST00000353275.9:c.*2590_*2592del	ENSP00000329167.5:n.*2590_*2592del
ENST00000382891.9:c.*342_*344del	ENSP00000372347.5:n.*342_*344del
ENST00000382892.6:c.*342_*344del	ENSP00000372348.2:n.*342_*344del
ENST00000382895.7:c.*342_*344del	ENSP00000372351.3:n.*342_*344del
ENST00000482415.6:n.3057_3059del
NM_001042424.2:c.*342_*344del	NP_001035889.1:n.*342_*344del
NM_133330.2:c.*342_*344del	NP_579877.1:n.*342_*344del
NM_133331.2:c.*342_*344del	NP_579878.1:n.*342_*344del
NM_133335.3:c.*342_*344del	NP_579890.1:n.*342_*344del
XM_005248001.3:c.*342_*344del	XP_005248058.1:n.*342_*344del
XM_005248002.1:c.*342_*344del	XP_005248059.1:n.*342_*344del
XM_006713915.2:c.*342_*344del	XP_006713978.1:n.*342_*344del
XM_011513557.1:c.*342_*344del	XP_011511859.1:n.*342_*344del
XM_011513558.1:c.*342_*344del	XP_011511860.1:n.*342_*344del
XM_011513559.1:c.*342_*344del	XP_011511861.1:n.*342_*344del
XM_011513560.1:c.*342_*344del	XP_011511862.1:n.*342_*344del
XM_005248001.4:c.*342_*344del	XP_005248058.1:n.*342_*344del
XM_005248002.3:c.*342_*344del	XP_005248059.1:n.*342_*344del
XM_011513557.2:c.*342_*344del	XP_011511859.1:n.*342_*344del
XM_011513560.2:c.*342_*344del	XP_011511862.1:n.*342_*344del
XM_017008587.1:c.*342_*344del	XP_016864076.1:n.*342_*344del
XM_017008588.1:c.*342_*344del	XP_016864077.1:n.*342_*344del
NM_001042424.3:c.*342_*344del MANE Select	NP_001035889.1:n.*342_*344del
NM_133330.3:c.*342_*344del	NP_579877.1:n.*342_*344del
NM_133331.3:c.*342_*344del	NP_579878.1:n.*342_*344del
NM_133335.4:c.*342_*344del	NP_579890.1:n.*342_*344del