Canonical Allele Identifier: CA366408694
Community Standard Title: NM_003730.6(RNASET2):c.703A>C (p.Ser235Arg)
Gene: RNASET2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.166929656T>G , CM000668.2:g.166929656T>G GRCh38
NC_000006.11:g.167343144T>G , CM000668.1:g.167343144T>G GRCh37
NC_000006.10:g.167263134T>G NCBI36
NG_016280.1:g.31934A>C
NG_016280.2:g.31934A>C

Transcript Alleles

HGVS Amino-acid Change
NM_003730.6:c.703A>C MANE Select NP_003721.2:p.Ser235Arg
ENST00000508775.6:c.703A>C MANE Select ENSP00000426455.2:p.Ser235Arg
NM_003730.4:c.703A>C NP_003721.2:p.Ser235Arg
NM_003730.5:c.703A>C NP_003721.2:p.Ser235Arg
ENST00000028008.9:c.*491A>C ENSP00000028008.5:n.*491A>C
ENST00000366855.10:c.589A>C ENSP00000424947.1:p.Ser197Arg
ENST00000421787.5:c.*1057A>C ENSP00000390833.1:n.*1057A>C
ENST00000467705.6:n.501A>C
ENST00000476238.6:c.703A>C ENSP00000422846.1:p.Ser235Arg
ENST00000478180.6:c.703A>C ENSP00000426059.1:p.Ser235Arg
ENST00000507747.1:c.434+4435A>C
ENST00000508775.5:c.703A>C ENSP00000426455.1:p.Ser235Arg
ENST00000510083.1:n.2142A>C
ENST00000611959.2:c.*491A>C ENSP00000480244.2:n.*491A>C
ENST00000620173.4:c.853A>C ENSP00000482755.1:p.Ser285Arg
ENST00000620173.5:c.589A>C ENSP00000482755.2:p.Ser197Arg
ENST00000682498.1:n.2821A>C
ENST00000682774.1:c.*544A>C ENSP00000507399.1:n.*544A>C
ENST00000683770.1:c.457A>C ENSP00000507710.1:p.Ser153Arg
ENST00000683968.1:n.3195A>C
ENST00000684236.1:c.427A>C ENSP00000508128.1:p.Ser143Arg
XM_017011397.1:c.589A>C XP_016866886.1:p.Ser197Arg
XM_017011398.1:c.427A>C XP_016866887.1:p.Ser143Arg
XM_017011399.1:c.*168A>C XP_016866888.1:n.*168A>C
XM_024446575.1:c.427A>C XP_024302343.1:p.Ser143Arg
XM_024446576.1:c.427A>C XP_024302344.1:p.Ser143Arg