Canonical Allele Identifier: CA91302264

Gene: NSD2

Linked Data

• dbSNP Id: rs1008374639
• gnomAD v3: 4-1981045-A-G
• gnomAD v4: 4-1981045-A-G
• MyVariant Identifiers: chr4:g.1982772A>G (hg19) ; chr4:g.1981045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1981045A>G , CM000666.2:g.1981045A>G	GRCh38
NC_000004.11:g.1982772A>G , CM000666.1:g.1982772A>G	GRCh37
NC_000004.10:g.1952570A>G	NCBI36
NG_009232.1:g.33188T>C
NG_009269.1:g.114650A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508803.6:c.*2136A>G MANE Select	ENSP00000423972.1:n.*2136A>G
ENST00000677559.1:c.*4000A>G	ENSP00000504406.1:n.*4000A>G
ENST00000677895.1:c.*2136A>G	ENSP00000503076.1:n.*2136A>G
ENST00000679039.1:n.3424A>G
ENST00000312087.10:c.*4517A>G	ENSP00000308780.6:n.*4517A>G
ENST00000353275.9:c.*4384A>G	ENSP00000329167.5:n.*4384A>G
ENST00000382891.9:c.*2136A>G	ENSP00000372347.5:n.*2136A>G
ENST00000382892.6:c.*2136A>G	ENSP00000372348.2:n.*2136A>G
ENST00000382895.7:c.*2136A>G	ENSP00000372351.3:n.*2136A>G
NM_001042424.2:c.*2136A>G	NP_001035889.1:n.*2136A>G
NM_133330.2:c.*2136A>G	NP_579877.1:n.*2136A>G
NM_133331.2:c.*2136A>G	NP_579878.1:n.*2136A>G
NM_133335.3:c.*2136A>G	NP_579890.1:n.*2136A>G
XM_005248001.3:c.*2136A>G	XP_005248058.1:n.*2136A>G
XM_005248002.1:c.*2136A>G	XP_005248059.1:n.*2136A>G
XM_006713915.2:c.*2136A>G	XP_006713978.1:n.*2136A>G
XM_011513557.1:c.*2136A>G	XP_011511859.1:n.*2136A>G
XM_011513558.1:c.*2136A>G	XP_011511860.1:n.*2136A>G
XM_011513559.1:c.*2136A>G	XP_011511861.1:n.*2136A>G
XM_011513560.1:c.*2136A>G	XP_011511862.1:n.*2136A>G
XM_005248001.4:c.*2136A>G	XP_005248058.1:n.*2136A>G
XM_005248002.3:c.*2136A>G	XP_005248059.1:n.*2136A>G
XM_011513557.2:c.*2136A>G	XP_011511859.1:n.*2136A>G
XM_011513560.2:c.*2136A>G	XP_011511862.1:n.*2136A>G
XM_017008587.1:c.*2136A>G	XP_016864076.1:n.*2136A>G
XM_017008588.1:c.*2136A>G	XP_016864077.1:n.*2136A>G
NM_001042424.3:c.*2136A>G MANE Select	NP_001035889.1:n.*2136A>G
NM_133330.3:c.*2136A>G	NP_579877.1:n.*2136A>G
NM_133331.3:c.*2136A>G	NP_579878.1:n.*2136A>G
NM_133335.4:c.*2136A>G	NP_579890.1:n.*2136A>G