Canonical Allele Identifier: CA443108316

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620281T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620168T>G , CM000667.2:g.6620168T>G	GRCh38
NC_000005.9:g.6620281T>G , CM000667.1:g.6620281T>G	GRCh37
NC_000005.8:g.6673281T>G	NCBI36
NG_028215.1:g.18193A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.753A>C MANE Select	ENSP00000264670.6:p.Ile251=
ENST00000264670.10:c.753A>C	ENSP00000264670.6:p.Ile251=
ENST00000504374.5:c.*59A>C	ENSP00000421783.1:n.*59A>C
ENST00000505264.1:n.420A>C
ENST00000505892.5:n.1322A>C
ENST00000506139.5:c.648A>C	ENSP00000420957.1:p.Ile216=
NM_001193455.1:c.648A>C	NP_001180384.1:p.Ile216=
NM_017755.5:c.753A>C	NP_060225.4:p.Ile251=
NR_037947.1:n.1049A>C
NM_017755.6:c.753A>C MANE Select	NP_060225.4:p.Ile251=
NM_001193455.2:c.648A>C	NP_001180384.1:p.Ile216=
NR_037947.2:n.733A>C