Canonical Allele Identifier: CA359125365

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620282A>C (hg19) ; chr5:g.6620169A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620169A>C , CM000667.2:g.6620169A>C	GRCh38
NC_000005.9:g.6620282A>C , CM000667.1:g.6620282A>C	GRCh37
NC_000005.8:g.6673282A>C	NCBI36
NG_028215.1:g.18192T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.752T>G MANE Select	ENSP00000264670.6:p.Ile251Arg
ENST00000264670.10:c.752T>G	ENSP00000264670.6:p.Ile251Arg
ENST00000504374.5:c.*58T>G	ENSP00000421783.1:n.*58T>G
ENST00000505264.1:n.419T>G
ENST00000505892.5:n.1321T>G
ENST00000506139.5:c.647T>G	ENSP00000420957.1:p.Ile216Arg
NM_001193455.1:c.647T>G	NP_001180384.1:p.Ile216Arg
NM_017755.5:c.752T>G	NP_060225.4:p.Ile251Arg
NR_037947.1:n.1048T>G
NM_017755.6:c.752T>G MANE Select	NP_060225.4:p.Ile251Arg
NM_001193455.2:c.647T>G	NP_001180384.1:p.Ile216Arg
NR_037947.2:n.732T>G