Canonical Allele Identifier: CA813186205

Gene: NSUN2

Linked Data

• dbSNP Id: rs145088969
• gnomAD v4: 5-6619973-G-C
• MyVariant Identifiers: chr5:g.6620086G>C (hg19) ; chr5:g.6619973G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6619973G>C , CM000667.2:g.6619973G>C	GRCh38
NC_000005.9:g.6620086G>C , CM000667.1:g.6620086G>C	GRCh37
NC_000005.8:g.6673086G>C	NCBI36
NG_028215.1:g.18388C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+133C>G MANE Select	ENSP00000264670.6:n.815+133C>G
ENST00000264670.10:c.815+133C>G	ENSP00000264670.6:n.815+133C>G
ENST00000504374.5:c.*121+133C>G	ENSP00000421783.1:n.*121+133C>G
ENST00000505892.5:n.1384+133C>G
ENST00000506139.5:c.710+133C>G	ENSP00000420957.1:n.710+133C>G
NM_001193455.1:c.710+133C>G	NP_001180384.1:n.710+133C>G
NM_017755.5:c.815+133C>G	NP_060225.4:n.815+133C>G
NR_037947.1:n.1111+133C>G
NM_017755.6:c.815+133C>G MANE Select	NP_060225.4:n.815+133C>G
NM_001193455.2:c.710+133C>G	NP_001180384.1:n.710+133C>G
NR_037947.2:n.795+133C>G