Canonical Allele Identifier: CA359125443

Gene: NSUN2

Linked Data

• dbSNP Id: rs1422962279
• gnomAD v3: 5-6620182-G-C
• gnomAD v4: 5-6620182-G-C
• MyVariant Identifiers: chr5:g.6620295G>C (hg19) ; chr5:g.6620182G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620182G>C , CM000667.2:g.6620182G>C	GRCh38
NC_000005.9:g.6620295G>C , CM000667.1:g.6620295G>C	GRCh37
NC_000005.8:g.6673295G>C	NCBI36
NG_028215.1:g.18179C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.739C>G MANE Select	ENSP00000264670.6:p.Pro247Ala
ENST00000264670.10:c.739C>G	ENSP00000264670.6:p.Pro247Ala
ENST00000504374.5:c.*45C>G	ENSP00000421783.1:n.*45C>G
ENST00000505264.1:n.406C>G
ENST00000505892.5:n.1308C>G
ENST00000506139.5:c.634C>G	ENSP00000420957.1:p.Pro212Ala
NM_001193455.1:c.634C>G	NP_001180384.1:p.Pro212Ala
NM_017755.5:c.739C>G	NP_060225.4:p.Pro247Ala
NR_037947.1:n.1035C>G
NM_017755.6:c.739C>G MANE Select	NP_060225.4:p.Pro247Ala
NM_001193455.2:c.634C>G	NP_001180384.1:p.Pro212Ala
NR_037947.2:n.719C>G