Canonical Allele Identifier: CA114257
Gene: RNASET2 HGNC NCBI

Linked Data

ClinVar Variation Id: 412
ClinVar RCV Id: RCV000000440
dbSNP Id: rs121918137

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.166931061A>G , CM000668.2:g.166931061A>G GRCh38
NC_000006.11:g.167344549A>G , CM000668.1:g.167344549A>G GRCh37
NC_000006.10:g.167264539A>G NCBI36
NG_016280.1:g.30529T>C
NG_016280.2:g.30529T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000611959.2:c.*338T>C ENSP00000480244.2:n.*338T>C
ENST00000620173.5:c.436T>C ENSP00000482755.2:p.Cys146Arg
ENST00000682498.1:n.2668T>C
ENST00000682774.1:c.*391T>C ENSP00000507399.1:n.*391T>C
ENST00000683770.1:c.304T>C ENSP00000507710.1:p.Cys102Arg
ENST00000683968.1:n.3042T>C
ENST00000684236.1:c.274T>C ENSP00000508128.1:p.Cys92Arg
ENST00000508775.6:c.550T>C MANE Select ENSP00000426455.2:p.Cys184Arg
ENST00000028008.9:c.*338T>C ENSP00000028008.5:n.*338T>C
ENST00000366855.10:c.436T>C ENSP00000424947.1:p.Cys146Arg
ENST00000421787.5:c.*904T>C ENSP00000390833.1:n.*904T>C
ENST00000467705.6:n.348T>C
ENST00000476238.6:c.550T>C ENSP00000422846.1:p.Cys184Arg
ENST00000478180.6:c.550T>C ENSP00000426059.1:p.Cys184Arg
ENST00000507747.1:c.434+3030T>C
ENST00000508775.5:c.550T>C ENSP00000426455.1:p.Cys184Arg
ENST00000510083.1:n.1989T>C
ENST00000620173.4:c.700T>C ENSP00000482755.1:p.Cys234Arg
NM_003730.4:c.550T>C NP_003721.2:p.Cys184Arg
NM_003730.5:c.550T>C NP_003721.2:p.Cys184Arg
XM_017011397.1:c.436T>C XP_016866886.1:p.Cys146Arg
XM_017011398.1:c.274T>C XP_016866887.1:p.Cys92Arg
XM_017011399.1:c.*15T>C XP_016866888.1:n.*15T>C
XM_024446575.1:c.274T>C XP_024302343.1:p.Cys92Arg
XM_024446576.1:c.274T>C XP_024302344.1:p.Cys92Arg
NM_003730.6:c.550T>C MANE Select NP_003721.2:p.Cys184Arg