Canonical Allele Identifier: CA359125093

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620238A>C (hg19) ; chr5:g.6620125A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620125A>C , CM000667.2:g.6620125A>C	GRCh38
NC_000005.9:g.6620238A>C , CM000667.1:g.6620238A>C	GRCh37
NC_000005.8:g.6673238A>C	NCBI36
NG_028215.1:g.18236T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.796T>G MANE Select	ENSP00000264670.6:p.Leu266Val
ENST00000264670.10:c.796T>G	ENSP00000264670.6:p.Leu266Val
ENST00000504374.5:c.*102T>G	ENSP00000421783.1:n.*102T>G
ENST00000505264.1:n.463T>G
ENST00000505892.5:n.1365T>G
ENST00000506139.5:c.691T>G	ENSP00000420957.1:p.Leu231Val
NM_001193455.1:c.691T>G	NP_001180384.1:p.Leu231Val
NM_017755.5:c.796T>G	NP_060225.4:p.Leu266Val
NR_037947.1:n.1092T>G
NM_017755.6:c.796T>G MANE Select	NP_060225.4:p.Leu266Val
NM_001193455.2:c.691T>G	NP_001180384.1:p.Leu231Val
NR_037947.2:n.776T>G