Canonical Allele Identifier: CA359125397

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620286G>C (hg19) ; chr5:g.6620173G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620173G>C , CM000667.2:g.6620173G>C	GRCh38
NC_000005.9:g.6620286G>C , CM000667.1:g.6620286G>C	GRCh37
NC_000005.8:g.6673286G>C	NCBI36
NG_028215.1:g.18188C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.748C>G MANE Select	ENSP00000264670.6:p.Gln250Glu
ENST00000264670.10:c.748C>G	ENSP00000264670.6:p.Gln250Glu
ENST00000504374.5:c.*54C>G	ENSP00000421783.1:n.*54C>G
ENST00000505264.1:n.415C>G
ENST00000505892.5:n.1317C>G
ENST00000506139.5:c.643C>G	ENSP00000420957.1:p.Gln215Glu
NM_001193455.1:c.643C>G	NP_001180384.1:p.Gln215Glu
NM_017755.5:c.748C>G	NP_060225.4:p.Gln250Glu
NR_037947.1:n.1044C>G
NM_017755.6:c.748C>G MANE Select	NP_060225.4:p.Gln250Glu
NM_001193455.2:c.643C>G	NP_001180384.1:p.Gln215Glu
NR_037947.2:n.728C>G