Canonical Allele Identifier: CA3192204
Gene: NSUN2 HGNC NCBI
ClinVar RCV:
RCV001249286
ClinVar Variation:
972974
dbSNP:
773052587
gnomAD v2:
5:6600317 C / T
gnomAD v3:
5:6600204 C / T
gnomAD v4:
chr5-6600204-C-T
Joint Max Group AF 0.00003774 (NFE)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00003545 (NFE)
MyVariant.info:
GRCh38 chr5:g.6600204C>T
GRCh37 chr5:g.6600317C>T
Revel Score:
ENST00000264670 (MANE Select) 0.152
ENST00000539938 0.152
ENST00000506139 0.152
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6600204C>T , CM000667.2:g.6600204C>T GRCh38
NC_000005.9:g.6600317C>T , CM000667.1:g.6600317C>T GRCh37
NC_000005.8:g.6653317C>T NCBI36
NG_028215.1:g.38157G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264670.11:c.2026G>A MANE Select ENSP00000264670.6:p.Val676Ile
ENST00000264670.10:c.2026G>A ENSP00000264670.6:p.Val676Ile
ENST00000504374.5:c.*1332G>A ENSP00000421783.1:n.*1332G>A
ENST00000505892.5:n.2595G>A
ENST00000506139.5:c.1921G>A ENSP00000420957.1:p.Val641Ile
ENST00000513888.5:n.486G>A
ENST00000514127.1:c.440G>A
NM_001193455.1:c.1921G>A NP_001180384.1:p.Val641Ile
NM_017755.5:c.2026G>A NP_060225.4:p.Val676Ile
NR_037947.1:n.2322G>A
NM_017755.6:c.2026G>A MANE Select NP_060225.4:p.Val676Ile
NM_001193455.2:c.1921G>A NP_001180384.1:p.Val641Ile
NR_037947.2:n.2006G>A
Search 100 bp 5'
Search 100 bp 3'