Canonical Allele Identifier: CA549205336

Gene: NSD2

Linked Data

• dbSNP Id: rs1347958157
• gnomAD v2: 4-1982809-C-CTTAT
• gnomAD v3: 4-1981082-C-CTTAT
• gnomAD v4: 4-1981082-C-CTTAT
• MyVariant Identifiers: chr4:g.1982809_1982810insTTAT (hg19) ; chr4:g.1981082_1981083insTTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1981085_1981088dup , CM000666.2:g.1981085_1981088dup	GRCh38
NC_000004.11:g.1982812_1982815dup , CM000666.1:g.1982812_1982815dup	GRCh37
NC_000004.10:g.1952610_1952613dup	NCBI36
NG_009232.1:g.33147_33150dup
NG_009269.1:g.114690_114693dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508803.6:c.*2176_*2179dup MANE Select	ENSP00000423972.1:n.*2176_*2179dup
ENST00000677559.1:c.*4040_*4043dup	ENSP00000504406.1:n.*4040_*4043dup
ENST00000677895.1:c.*2176_*2179dup	ENSP00000503076.1:n.*2176_*2179dup
ENST00000679039.1:n.3464_3467dup
ENST00000312087.10:c.*4557_*4560dup	ENSP00000308780.6:n.*4557_*4560dup
ENST00000353275.9:c.*4424_*4427dup	ENSP00000329167.5:n.*4424_*4427dup
ENST00000382891.9:c.*2176_*2179dup	ENSP00000372347.5:n.*2176_*2179dup
ENST00000382892.6:c.*2176_*2179dup	ENSP00000372348.2:n.*2176_*2179dup
ENST00000382895.7:c.*2176_*2179dup	ENSP00000372351.3:n.*2176_*2179dup
NM_001042424.2:c.*2176_*2179dup	NP_001035889.1:n.*2176_*2179dup
NM_133330.2:c.*2176_*2179dup	NP_579877.1:n.*2176_*2179dup
NM_133331.2:c.*2176_*2179dup	NP_579878.1:n.*2176_*2179dup
NM_133335.3:c.*2176_*2179dup	NP_579890.1:n.*2176_*2179dup
XM_005248001.3:c.*2176_*2179dup	XP_005248058.1:n.*2176_*2179dup
XM_005248002.1:c.*2176_*2179dup	XP_005248059.1:n.*2176_*2179dup
XM_006713915.2:c.*2176_*2179dup	XP_006713978.1:n.*2176_*2179dup
XM_011513557.1:c.*2176_*2179dup	XP_011511859.1:n.*2176_*2179dup
XM_011513558.1:c.*2176_*2179dup	XP_011511860.1:n.*2176_*2179dup
XM_011513559.1:c.*2176_*2179dup	XP_011511861.1:n.*2176_*2179dup
XM_011513560.1:c.*2176_*2179dup	XP_011511862.1:n.*2176_*2179dup
XM_005248001.4:c.*2176_*2179dup	XP_005248058.1:n.*2176_*2179dup
XM_005248002.3:c.*2176_*2179dup	XP_005248059.1:n.*2176_*2179dup
XM_011513557.2:c.*2176_*2179dup	XP_011511859.1:n.*2176_*2179dup
XM_011513560.2:c.*2176_*2179dup	XP_011511862.1:n.*2176_*2179dup
XM_017008587.1:c.*2176_*2179dup	XP_016864076.1:n.*2176_*2179dup
XM_017008588.1:c.*2176_*2179dup	XP_016864077.1:n.*2176_*2179dup
NM_001042424.3:c.*2176_*2179dup MANE Select	NP_001035889.1:n.*2176_*2179dup
NM_133330.3:c.*2176_*2179dup	NP_579877.1:n.*2176_*2179dup
NM_133331.3:c.*2176_*2179dup	NP_579878.1:n.*2176_*2179dup
NM_133335.4:c.*2176_*2179dup	NP_579890.1:n.*2176_*2179dup