Canonical Allele Identifier: CA443108331

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620284C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620171C>T , CM000667.2:g.6620171C>T	GRCh38
NC_000005.9:g.6620284C>T , CM000667.1:g.6620284C>T	GRCh37
NC_000005.8:g.6673284C>T	NCBI36
NG_028215.1:g.18190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.750G>A MANE Select	ENSP00000264670.6:p.Gln250=
ENST00000264670.10:c.750G>A	ENSP00000264670.6:p.Gln250=
ENST00000504374.5:c.*56G>A	ENSP00000421783.1:n.*56G>A
ENST00000505264.1:n.417G>A
ENST00000505892.5:n.1319G>A
ENST00000506139.5:c.645G>A	ENSP00000420957.1:p.Gln215=
NM_001193455.1:c.645G>A	NP_001180384.1:p.Gln215=
NM_017755.5:c.750G>A	NP_060225.4:p.Gln250=
NR_037947.1:n.1046G>A
NM_017755.6:c.750G>A MANE Select	NP_060225.4:p.Gln250=
NM_001193455.2:c.645G>A	NP_001180384.1:p.Gln215=
NR_037947.2:n.730G>A