Canonical Allele Identifier: CA359125427

Gene: NSUN2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.743G>C MANE Select	ENSP00000264670.6:p.Arg248Thr
ENST00000264670.10:c.743G>C	ENSP00000264670.6:p.Arg248Thr
ENST00000504374.5:c.*49G>C	ENSP00000421783.1:n.*49G>C
ENST00000505264.1:n.410G>C
ENST00000505892.5:n.1312G>C
ENST00000506139.5:c.638G>C	ENSP00000420957.1:p.Arg213Thr
NM_001193455.1:c.638G>C	NP_001180384.1:p.Arg213Thr
NM_017755.5:c.743G>C	NP_060225.4:p.Arg248Thr
NR_037947.1:n.1039G>C
NM_017755.6:c.743G>C MANE Select	NP_060225.4:p.Arg248Thr
NM_001193455.2:c.638G>C	NP_001180384.1:p.Arg213Thr
NR_037947.2:n.723G>C