Canonical Allele Identifier: CA207716

Gene: NSUN2

Linked Data

• ClinVar Variation Id: 211761
• ClinVar RCV Id: RCV000193914 ; RCV000281579 ; RCV000434232 ; RCV002314837 ; RCV003917762
• dbSNP Id: rs140673211
• ExAC: 5:6600043 C / T
• gnomAD v2: 5-6600043-C-T
• gnomAD v3: 5-6599930-C-T
• gnomAD v4: 5-6599930-C-T
• MyVariant Identifiers: chr5:g.6600043C>T (hg19) ; chr5:g.6599930C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6599930C>T , CM000667.2:g.6599930C>T	GRCh38
NC_000005.9:g.6600043C>T , CM000667.1:g.6600043C>T	GRCh37
NC_000005.8:g.6653043C>T	NCBI36
NG_028215.1:g.38431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.2300G>A MANE Select	ENSP00000264670.6:p.Arg767Gln
ENST00000264670.10:c.2300G>A	ENSP00000264670.6:p.Arg767Gln
ENST00000504374.5:c.*1606G>A	ENSP00000421783.1:n.*1606G>A
ENST00000505892.5:n.2869G>A
ENST00000506139.5:c.2195G>A	ENSP00000420957.1:p.Arg732Gln
ENST00000513888.5:n.760G>A
NM_001193455.1:c.2195G>A	NP_001180384.1:p.Arg732Gln
NM_017755.5:c.2300G>A	NP_060225.4:p.Arg767Gln
NR_037947.1:n.2596G>A
NM_017755.6:c.2300G>A MANE Select	NP_060225.4:p.Arg767Gln
NM_001193455.2:c.2195G>A	NP_001180384.1:p.Arg732Gln
NR_037947.2:n.2280G>A