Canonical Allele Identifier: CA355986948

Gene: NSD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1953458C>T , CM000666.2:g.1953458C>T	GRCh38
NC_000004.11:g.1955185C>T , CM000666.1:g.1955185C>T	GRCh37
NC_000004.10:g.1924983C>T	NCBI36
NG_009269.1:g.87063C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042424.3:c.2272C>T MANE Select	NP_001035889.1:p.Arg758Cys
ENST00000508803.6:c.2272C>T MANE Select	ENSP00000423972.1:p.Arg758Cys
NM_001042424.2:c.2272C>T	NP_001035889.1:p.Arg758Cys
NM_133330.2:c.2272C>T	NP_579877.1:p.Arg758Cys
NM_133330.3:c.2272C>T	NP_579877.1:p.Arg758Cys
NM_133331.2:c.2272C>T	NP_579878.1:p.Arg758Cys
NM_133331.3:c.2272C>T	NP_579878.1:p.Arg758Cys
NM_133335.3:c.2272C>T	NP_579890.1:p.Arg758Cys
NM_133335.4:c.2272C>T	NP_579890.1:p.Arg758Cys
ENST00000312087.10:c.*555C>T	ENSP00000308780.6:n.*555C>T
ENST00000353275.9:c.*422C>T	ENSP00000329167.5:n.*422C>T
ENST00000382888.3:c.316C>T	ENSP00000372344.3:p.Arg106Cys
ENST00000382891.9:c.2272C>T	ENSP00000372347.5:p.Arg758Cys
ENST00000382892.6:c.2272C>T	ENSP00000372348.2:p.Arg758Cys
ENST00000382895.7:c.2272C>T	ENSP00000372351.3:p.Arg758Cys
ENST00000482415.6:n.889C>T
ENST00000502425.5:n.294C>T
ENST00000503207.1:n.205C>T
ENST00000505643.5:n.262C>T
ENST00000508803.5:c.2272C>T	ENSP00000423972.1:p.Arg758Cys
ENST00000514329.5:c.374+1227C>T
ENST00000677559.1:c.2272C>T	ENSP00000504406.1:p.Arg758Cys
XM_005248001.3:c.2272C>T	XP_005248058.1:p.Arg758Cys
XM_005248001.4:c.2272C>T	XP_005248058.1:p.Arg758Cys
XM_005248002.1:c.2065C>T	XP_005248059.1:p.Arg689Cys
XM_005248002.3:c.2065C>T	XP_005248059.1:p.Arg689Cys
XM_006713915.2:c.-72C>T	XP_006713978.1:n.-72C>T
XM_011513557.1:c.2272C>T	XP_011511859.1:p.Arg758Cys
XM_011513557.2:c.2272C>T	XP_011511859.1:p.Arg758Cys
XM_011513558.1:c.2272C>T	XP_011511860.1:p.Arg758Cys
XM_011513559.1:c.316C>T	XP_011511861.1:p.Arg106Cys
XM_017008587.1:c.-72C>T	XP_016864076.1:n.-72C>T
XM_017008588.1:c.-72C>T	XP_016864077.1:n.-72C>T