Canonical Allele Identifier: CA3192682
Gene: NSUN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1254788
ClinVar RCV Id: RCV001658970 RCV002539624
dbSNP Id: rs776424531
ExAC: 5:6620277 C / G
gnomAD v2: 5-6620277-C-G
gnomAD v4: 5-6620164-C-G
MyVariant Identifiers: chr5:g.6620277C>G (hg19) chr5:g.6620164C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6620164C>G , CM000667.2:g.6620164C>G GRCh38
NC_000005.9:g.6620277C>G , CM000667.1:g.6620277C>G GRCh37
NC_000005.8:g.6673277C>G NCBI36
NG_028215.1:g.18197G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264670.11:c.757G>C MANE Select ENSP00000264670.6:p.Val253Leu
ENST00000264670.10:c.757G>C ENSP00000264670.6:p.Val253Leu
ENST00000504374.5:c.*63G>C ENSP00000421783.1:n.*63G>C
ENST00000505264.1:n.424G>C
ENST00000505892.5:n.1326G>C
ENST00000506139.5:c.652G>C ENSP00000420957.1:p.Val218Leu
NM_001193455.1:c.652G>C NP_001180384.1:p.Val218Leu
NM_017755.5:c.757G>C NP_060225.4:p.Val253Leu
NR_037947.1:n.1053G>C
NM_017755.6:c.757G>C MANE Select NP_060225.4:p.Val253Leu
NM_001193455.2:c.652G>C NP_001180384.1:p.Val218Leu
NR_037947.2:n.737G>C
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