Canonical Allele Identifier: CA359125418

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620290C>A (hg19) ; chr5:g.6620177C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620177C>A , CM000667.2:g.6620177C>A	GRCh38
NC_000005.9:g.6620290C>A , CM000667.1:g.6620290C>A	GRCh37
NC_000005.8:g.6673290C>A	NCBI36
NG_028215.1:g.18184G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.744G>T MANE Select	ENSP00000264670.6:p.Arg248Ser
ENST00000264670.10:c.744G>T	ENSP00000264670.6:p.Arg248Ser
ENST00000504374.5:c.*50G>T	ENSP00000421783.1:n.*50G>T
ENST00000505264.1:n.411G>T
ENST00000505892.5:n.1313G>T
ENST00000506139.5:c.639G>T	ENSP00000420957.1:p.Arg213Ser
NM_001193455.1:c.639G>T	NP_001180384.1:p.Arg213Ser
NM_017755.5:c.744G>T	NP_060225.4:p.Arg248Ser
NR_037947.1:n.1040G>T
NM_017755.6:c.744G>T MANE Select	NP_060225.4:p.Arg248Ser
NM_001193455.2:c.639G>T	NP_001180384.1:p.Arg213Ser
NR_037947.2:n.724G>T