Canonical Allele Identifier: CA91302083

Gene: NSD2

Linked Data

• dbSNP Id: rs547970864
• gnomAD v2: 4-1982569-A-C
• gnomAD v3: 4-1980842-A-C
• gnomAD v4: 4-1980842-A-C
• MyVariant Identifiers: chr4:g.1982569A>C (hg19) ; chr4:g.1980842A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1980842A>C , CM000666.2:g.1980842A>C	GRCh38
NC_000004.11:g.1982569A>C , CM000666.1:g.1982569A>C	GRCh37
NC_000004.10:g.1952367A>C	NCBI36
NG_009232.1:g.33391T>G
NG_009269.1:g.114447A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000508803.6:c.*1933A>C MANE Select	ENSP00000423972.1:n.*1933A>C
ENST00000677559.1:c.*3797A>C	ENSP00000504406.1:n.*3797A>C
ENST00000677895.1:c.*1933A>C	ENSP00000503076.1:n.*1933A>C
ENST00000679039.1:n.3221A>C
ENST00000312087.10:c.*4314A>C	ENSP00000308780.6:n.*4314A>C
ENST00000353275.9:c.*4181A>C	ENSP00000329167.5:n.*4181A>C
ENST00000382891.9:c.*1933A>C	ENSP00000372347.5:n.*1933A>C
ENST00000382892.6:c.*1933A>C	ENSP00000372348.2:n.*1933A>C
ENST00000382895.7:c.*1933A>C	ENSP00000372351.3:n.*1933A>C
NM_001042424.2:c.*1933A>C	NP_001035889.1:n.*1933A>C
NM_133330.2:c.*1933A>C	NP_579877.1:n.*1933A>C
NM_133331.2:c.*1933A>C	NP_579878.1:n.*1933A>C
NM_133335.3:c.*1933A>C	NP_579890.1:n.*1933A>C
XM_005248001.3:c.*1933A>C	XP_005248058.1:n.*1933A>C
XM_005248002.1:c.*1933A>C	XP_005248059.1:n.*1933A>C
XM_006713915.2:c.*1933A>C	XP_006713978.1:n.*1933A>C
XM_011513557.1:c.*1933A>C	XP_011511859.1:n.*1933A>C
XM_011513558.1:c.*1933A>C	XP_011511860.1:n.*1933A>C
XM_011513559.1:c.*1933A>C	XP_011511861.1:n.*1933A>C
XM_011513560.1:c.*1933A>C	XP_011511862.1:n.*1933A>C
XM_005248001.4:c.*1933A>C	XP_005248058.1:n.*1933A>C
XM_005248002.3:c.*1933A>C	XP_005248059.1:n.*1933A>C
XM_011513557.2:c.*1933A>C	XP_011511859.1:n.*1933A>C
XM_011513560.2:c.*1933A>C	XP_011511862.1:n.*1933A>C
XM_017008587.1:c.*1933A>C	XP_016864076.1:n.*1933A>C
XM_017008588.1:c.*1933A>C	XP_016864077.1:n.*1933A>C
NM_001042424.3:c.*1933A>C MANE Select	NP_001035889.1:n.*1933A>C
NM_133330.3:c.*1933A>C	NP_579877.1:n.*1933A>C
NM_133331.3:c.*1933A>C	NP_579878.1:n.*1933A>C
NM_133335.4:c.*1933A>C	NP_579890.1:n.*1933A>C