Canonical Allele Identifier: CA113737509

Gene: NSUN2

Linked Data

• dbSNP Id: rs901355679
• gnomAD v4: 5-6620170-T-C
• MyVariant Identifiers: chr5:g.6620283T>C (hg19) ; chr5:g.6620170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620170T>C , CM000667.2:g.6620170T>C	GRCh38
NC_000005.9:g.6620283T>C , CM000667.1:g.6620283T>C	GRCh37
NC_000005.8:g.6673283T>C	NCBI36
NG_028215.1:g.18191A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.751A>G MANE Select	ENSP00000264670.6:p.Ile251Val
ENST00000264670.10:c.751A>G	ENSP00000264670.6:p.Ile251Val
ENST00000504374.5:c.*57A>G	ENSP00000421783.1:n.*57A>G
ENST00000505264.1:n.418A>G
ENST00000505892.5:n.1320A>G
ENST00000506139.5:c.646A>G	ENSP00000420957.1:p.Ile216Val
NM_001193455.1:c.646A>G	NP_001180384.1:p.Ile216Val
NM_017755.5:c.751A>G	NP_060225.4:p.Ile251Val
NR_037947.1:n.1047A>G
NM_017755.6:c.751A>G MANE Select	NP_060225.4:p.Ile251Val
NM_001193455.2:c.646A>G	NP_001180384.1:p.Ile216Val
NR_037947.2:n.731A>G