Canonical Allele Identifier: CA355988898

Gene: NSD2

Linked Data

• ClinVar Variation Id: 2662722
• ClinVar RCV Id: RCV003441387
• MyVariant Identifiers: chr4:g.1902409C>T (hg19) ; chr4:g.1900682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1900682C>T , CM000666.2:g.1900682C>T	GRCh38
NC_000004.11:g.1902409C>T , CM000666.1:g.1902409C>T	GRCh37
NC_000004.10:g.1872207C>T	NCBI36
NG_009269.1:g.34287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398261.6:c.28C>T	ENSP00000381311.1:p.Leu10Phe
ENST00000508803.6:c.28C>T MANE Select	ENSP00000423972.1:p.Leu10Phe
ENST00000512700.2:c.28C>T	ENSP00000427516.2:p.Leu10Phe
ENST00000677559.1:c.28C>T	ENSP00000504406.1:p.Leu10Phe
ENST00000678714.1:c.28C>T	ENSP00000504221.1:p.Leu10Phe
ENST00000312087.10:c.28C>T	ENSP00000308780.6:p.Leu10Phe
ENST00000353275.9:c.28C>T	ENSP00000329167.5:p.Leu10Phe
ENST00000382891.9:c.28C>T	ENSP00000372347.5:p.Leu10Phe
ENST00000382892.6:c.28C>T	ENSP00000372348.2:p.Leu10Phe
ENST00000382895.7:c.28C>T	ENSP00000372351.3:p.Leu10Phe
ENST00000398261.5:c.28C>T	ENSP00000381311.1:p.Leu10Phe
ENST00000420906.6:c.28C>T	ENSP00000399251.2:p.Leu10Phe
ENST00000436793.5:c.28C>T	ENSP00000416725.1:p.Leu10Phe
ENST00000503128.5:c.28C>T	ENSP00000425761.1:p.Leu10Phe
ENST00000507820.5:c.28C>T	ENSP00000421551.1:p.Leu10Phe
ENST00000508355.5:n.146C>T
ENST00000508803.5:c.28C>T	ENSP00000423972.1:p.Leu10Phe
ENST00000509115.5:c.28C>T	ENSP00000422878.1:p.Leu10Phe
ENST00000512700.1:c.28C>T	ENSP00000427516.1:p.Leu10Phe
ENST00000514045.5:c.28C>T	ENSP00000421681.1:p.Leu10Phe
ENST00000515806.1:c.28C>T	ENSP00000427434.1:p.Leu10Phe
NM_001042424.2:c.28C>T	NP_001035889.1:p.Leu10Phe
NM_007331.1:c.28C>T	NP_015627.1:p.Leu10Phe
NM_133330.2:c.28C>T	NP_579877.1:p.Leu10Phe
NM_133331.2:c.28C>T	NP_579878.1:p.Leu10Phe
NM_133334.2:c.28C>T	NP_579889.1:p.Leu10Phe
NM_133335.3:c.28C>T	NP_579890.1:p.Leu10Phe
XM_005248001.3:c.28C>T	XP_005248058.1:p.Leu10Phe
XM_005248002.1:c.28C>T	XP_005248059.1:p.Leu10Phe
XM_005248005.1:c.28C>T	XP_005248062.1:p.Leu10Phe
XM_006713914.2:c.28C>T	XP_006713977.1:p.Leu10Phe
XM_011513557.1:c.28C>T	XP_011511859.1:p.Leu10Phe
XM_011513558.1:c.28C>T	XP_011511860.1:p.Leu10Phe
XM_005248001.4:c.28C>T	XP_005248058.1:p.Leu10Phe
XM_005248002.3:c.28C>T	XP_005248059.1:p.Leu10Phe
XM_005248005.3:c.28C>T	XP_005248062.1:p.Leu10Phe
XM_006713914.3:c.28C>T	XP_006713977.1:p.Leu10Phe
XM_011513557.2:c.28C>T	XP_011511859.1:p.Leu10Phe
NM_001042424.3:c.28C>T MANE Select	NP_001035889.1:p.Leu10Phe
NM_007331.2:c.28C>T	NP_015627.1:p.Leu10Phe
NM_133330.3:c.28C>T	NP_579877.1:p.Leu10Phe
NM_133331.3:c.28C>T	NP_579878.1:p.Leu10Phe
NM_133335.4:c.28C>T	NP_579890.1:p.Leu10Phe