Canonical Allele Identifier: CA2812943

Gene: NSD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1978834C>T , CM000666.2:g.1978834C>T	GRCh38
NC_000004.11:g.1980561C>T , CM000666.1:g.1980561C>T	GRCh37
NC_000004.10:g.1950359C>T	NCBI36
NG_009269.1:g.112439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508803.6:c.4023C>T MANE Select	ENSP00000423972.1:p.Pro1341=
ENST00000677559.1:c.*1789C>T	ENSP00000504406.1:n.*1789C>T
ENST00000677895.1:c.735C>T	ENSP00000503076.1:p.Pro245=
ENST00000679039.1:n.1213C>T
ENST00000312087.10:c.*2306C>T	ENSP00000308780.6:n.*2306C>T
ENST00000353275.9:c.*2173C>T	ENSP00000329167.5:n.*2173C>T
ENST00000382888.3:c.2067C>T	ENSP00000372344.3:p.Pro689=
ENST00000382891.9:c.4023C>T	ENSP00000372347.5:p.Pro1341=
ENST00000382892.6:c.4023C>T	ENSP00000372348.2:p.Pro1341=
ENST00000382895.7:c.4023C>T	ENSP00000372351.3:p.Pro1341=
ENST00000482415.6:n.2640C>T
ENST00000508299.1:n.524C>T
ENST00000508803.5:c.4023C>T	ENSP00000423972.1:p.Pro1341=
NM_001042424.2:c.4023C>T	NP_001035889.1:p.Pro1341=
NM_133330.2:c.4023C>T	NP_579877.1:p.Pro1341=
NM_133331.2:c.4023C>T	NP_579878.1:p.Pro1341=
NM_133335.3:c.4023C>T	NP_579890.1:p.Pro1341=
XM_005248001.3:c.4023C>T	XP_005248058.1:p.Pro1341=
XM_005248002.1:c.3816C>T	XP_005248059.1:p.Pro1272=
XM_006713915.2:c.1680C>T	XP_006713978.1:p.Pro560=
XM_011513557.1:c.4023C>T	XP_011511859.1:p.Pro1341=
XM_011513558.1:c.4023C>T	XP_011511860.1:p.Pro1341=
XM_011513559.1:c.2067C>T	XP_011511861.1:p.Pro689=
XM_011513560.1:c.1680C>T	XP_011511862.1:p.Pro560=
XM_005248001.4:c.4023C>T	XP_005248058.1:p.Pro1341=
XM_005248002.3:c.3816C>T	XP_005248059.1:p.Pro1272=
XM_011513557.2:c.4023C>T	XP_011511859.1:p.Pro1341=
XM_011513560.2:c.1680C>T	XP_011511862.1:p.Pro560=
XM_017008587.1:c.1680C>T	XP_016864076.1:p.Pro560=
XM_017008588.1:c.1680C>T	XP_016864077.1:p.Pro560=
NM_001042424.3:c.4023C>T MANE Select	NP_001035889.1:p.Pro1341=
NM_133330.3:c.4023C>T	NP_579877.1:p.Pro1341=
NM_133331.3:c.4023C>T	NP_579878.1:p.Pro1341=
NM_133335.4:c.4023C>T	NP_579890.1:p.Pro1341=