Canonical Allele Identifier: CA443108281

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620275C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620162C>G , CM000667.2:g.6620162C>G	GRCh38
NC_000005.9:g.6620275C>G , CM000667.1:g.6620275C>G	GRCh37
NC_000005.8:g.6673275C>G	NCBI36
NG_028215.1:g.18199G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.759G>C MANE Select	ENSP00000264670.6:p.Val253=
ENST00000264670.10:c.759G>C	ENSP00000264670.6:p.Val253=
ENST00000504374.5:c.*65G>C	ENSP00000421783.1:n.*65G>C
ENST00000505264.1:n.426G>C
ENST00000505892.5:n.1328G>C
ENST00000506139.5:c.654G>C	ENSP00000420957.1:p.Val218=
NM_001193455.1:c.654G>C	NP_001180384.1:p.Val218=
NM_017755.5:c.759G>C	NP_060225.4:p.Val253=
NR_037947.1:n.1055G>C
NM_017755.6:c.759G>C MANE Select	NP_060225.4:p.Val253=
NM_001193455.2:c.654G>C	NP_001180384.1:p.Val218=
NR_037947.2:n.739G>C