Canonical Allele Identifier: CA359124980

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620223A>C (hg19) ; chr5:g.6620110A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620110A>C , CM000667.2:g.6620110A>C	GRCh38
NC_000005.9:g.6620223A>C , CM000667.1:g.6620223A>C	GRCh37
NC_000005.8:g.6673223A>C	NCBI36
NG_028215.1:g.18251T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.811T>G MANE Select	ENSP00000264670.6:p.Cys271Gly
ENST00000264670.10:c.811T>G	ENSP00000264670.6:p.Cys271Gly
ENST00000504374.5:c.*117T>G	ENSP00000421783.1:n.*117T>G
ENST00000505892.5:n.1380T>G
ENST00000506139.5:c.706T>G	ENSP00000420957.1:p.Cys236Gly
NM_001193455.1:c.706T>G	NP_001180384.1:p.Cys236Gly
NM_017755.5:c.811T>G	NP_060225.4:p.Cys271Gly
NR_037947.1:n.1107T>G
NM_017755.6:c.811T>G MANE Select	NP_060225.4:p.Cys271Gly
NM_001193455.2:c.706T>G	NP_001180384.1:p.Cys236Gly
NR_037947.2:n.791T>G