Canonical Allele Identifier: CA129884
Gene: NSUN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 31678
ClinVar RCV Id: RCV000024358 RCV001588826
dbSNP Id: rs587776908
ExAC: 5:6600308 C / T
gnomAD v2: 5-6600308-C-T
gnomAD v4: 5-6600195-C-T
MyVariant Identifiers: chr5:g.6600308C>T (hg19) chr5:g.6600195C>T (hg38)
PubMed: PMID:22541562
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6600195C>T , CM000667.2:g.6600195C>T GRCh38
NC_000005.9:g.6600308C>T , CM000667.1:g.6600308C>T GRCh37
NC_000005.8:g.6653308C>T NCBI36
NG_028215.1:g.38166G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264670.11:c.2035G>A MANE Select ENSP00000264670.6:p.Gly679Arg
ENST00000264670.10:c.2035G>A ENSP00000264670.6:p.Gly679Arg
ENST00000504374.5:c.*1341G>A ENSP00000421783.1:n.*1341G>A
ENST00000505892.5:n.2604G>A
ENST00000506139.5:c.1930G>A ENSP00000420957.1:p.Gly644Arg
ENST00000513888.5:n.495G>A
ENST00000514127.1:c.449G>A
NM_001193455.1:c.1930G>A NP_001180384.1:p.Gly644Arg
NM_017755.5:c.2035G>A NP_060225.4:p.Gly679Arg
NR_037947.1:n.2331G>A
NM_017755.6:c.2035G>A MANE Select NP_060225.4:p.Gly679Arg
NM_001193455.2:c.1930G>A NP_001180384.1:p.Gly644Arg
NR_037947.2:n.2015G>A
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