Canonical Allele Identifier: CA359125429

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620291C>T (hg19) ; chr5:g.6620178C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620178C>T , CM000667.2:g.6620178C>T	GRCh38
NC_000005.9:g.6620291C>T , CM000667.1:g.6620291C>T	GRCh37
NC_000005.8:g.6673291C>T	NCBI36
NG_028215.1:g.18183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.743G>A MANE Select	ENSP00000264670.6:p.Arg248Lys
ENST00000264670.10:c.743G>A	ENSP00000264670.6:p.Arg248Lys
ENST00000504374.5:c.*49G>A	ENSP00000421783.1:n.*49G>A
ENST00000505264.1:n.410G>A
ENST00000505892.5:n.1312G>A
ENST00000506139.5:c.638G>A	ENSP00000420957.1:p.Arg213Lys
NM_001193455.1:c.638G>A	NP_001180384.1:p.Arg213Lys
NM_017755.5:c.743G>A	NP_060225.4:p.Arg248Lys
NR_037947.1:n.1039G>A
NM_017755.6:c.743G>A MANE Select	NP_060225.4:p.Arg248Lys
NM_001193455.2:c.638G>A	NP_001180384.1:p.Arg213Lys
NR_037947.2:n.723G>A