Canonical Allele Identifier: CA2591204435

Gene: NSD2

Linked Data

• gnomAD v3: 4-1981077-ATTAAC-A
• gnomAD v4: 4-1981077-ATTAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1981081_1981085del , CM000666.2:g.1981081_1981085del	GRCh38
NC_000004.11:g.1982808_1982812del , CM000666.1:g.1982808_1982812del	GRCh37
NC_000004.10:g.1952606_1952610del	NCBI36
NG_009232.1:g.33151_33155del
NG_009269.1:g.114686_114690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508803.6:c.*2172_*2176del MANE Select	ENSP00000423972.1:n.*2172_*2176del
ENST00000677559.1:c.*4036_*4040del	ENSP00000504406.1:n.*4036_*4040del
ENST00000677895.1:c.*2172_*2176del	ENSP00000503076.1:n.*2172_*2176del
ENST00000679039.1:n.3460_3464del
ENST00000312087.10:c.*4553_*4557del	ENSP00000308780.6:n.*4553_*4557del
ENST00000353275.9:c.*4420_*4424del	ENSP00000329167.5:n.*4420_*4424del
ENST00000382891.9:c.*2172_*2176del	ENSP00000372347.5:n.*2172_*2176del
ENST00000382892.6:c.*2172_*2176del	ENSP00000372348.2:n.*2172_*2176del
ENST00000382895.7:c.*2172_*2176del	ENSP00000372351.3:n.*2172_*2176del
NM_001042424.2:c.*2172_*2176del	NP_001035889.1:n.*2172_*2176del
NM_133330.2:c.*2172_*2176del	NP_579877.1:n.*2172_*2176del
NM_133331.2:c.*2172_*2176del	NP_579878.1:n.*2172_*2176del
NM_133335.3:c.*2172_*2176del	NP_579890.1:n.*2172_*2176del
XM_005248001.3:c.*2172_*2176del	XP_005248058.1:n.*2172_*2176del
XM_005248002.1:c.*2172_*2176del	XP_005248059.1:n.*2172_*2176del
XM_006713915.2:c.*2172_*2176del	XP_006713978.1:n.*2172_*2176del
XM_011513557.1:c.*2172_*2176del	XP_011511859.1:n.*2172_*2176del
XM_011513558.1:c.*2172_*2176del	XP_011511860.1:n.*2172_*2176del
XM_011513559.1:c.*2172_*2176del	XP_011511861.1:n.*2172_*2176del
XM_011513560.1:c.*2172_*2176del	XP_011511862.1:n.*2172_*2176del
XM_005248001.4:c.*2172_*2176del	XP_005248058.1:n.*2172_*2176del
XM_005248002.3:c.*2172_*2176del	XP_005248059.1:n.*2172_*2176del
XM_011513557.2:c.*2172_*2176del	XP_011511859.1:n.*2172_*2176del
XM_011513560.2:c.*2172_*2176del	XP_011511862.1:n.*2172_*2176del
XM_017008587.1:c.*2172_*2176del	XP_016864076.1:n.*2172_*2176del
XM_017008588.1:c.*2172_*2176del	XP_016864077.1:n.*2172_*2176del
NM_001042424.3:c.*2172_*2176del MANE Select	NP_001035889.1:n.*2172_*2176del
NM_133330.3:c.*2172_*2176del	NP_579877.1:n.*2172_*2176del
NM_133331.3:c.*2172_*2176del	NP_579878.1:n.*2172_*2176del
NM_133335.4:c.*2172_*2176del	NP_579890.1:n.*2172_*2176del