Canonical Allele Identifier: CA359125134

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620245A>T (hg19) ; chr5:g.6620132A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620132A>T , CM000667.2:g.6620132A>T	GRCh38
NC_000005.9:g.6620245A>T , CM000667.1:g.6620245A>T	GRCh37
NC_000005.8:g.6673245A>T	NCBI36
NG_028215.1:g.18229T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.789T>A MANE Select	ENSP00000264670.6:p.Asp263Glu
ENST00000264670.10:c.789T>A	ENSP00000264670.6:p.Asp263Glu
ENST00000504374.5:c.*95T>A	ENSP00000421783.1:n.*95T>A
ENST00000505264.1:n.456T>A
ENST00000505892.5:n.1358T>A
ENST00000506139.5:c.684T>A	ENSP00000420957.1:p.Asp228Glu
NM_001193455.1:c.684T>A	NP_001180384.1:p.Asp228Glu
NM_017755.5:c.789T>A	NP_060225.4:p.Asp263Glu
NR_037947.1:n.1085T>A
NM_017755.6:c.789T>A MANE Select	NP_060225.4:p.Asp263Glu
NM_001193455.2:c.684T>A	NP_001180384.1:p.Asp228Glu
NR_037947.2:n.769T>A