Canonical Allele Identifier: CA366408689

Gene: RNASET2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.166929654G>C , CM000668.2:g.166929654G>C	GRCh38
NC_000006.11:g.167343142G>C , CM000668.1:g.167343142G>C	GRCh37
NC_000006.10:g.167263132G>C	NCBI36
NG_016280.1:g.31936C>G
NG_016280.2:g.31936C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003730.6:c.705C>G MANE Select	NP_003721.2:p.Ser235Arg
ENST00000508775.6:c.705C>G MANE Select	ENSP00000426455.2:p.Ser235Arg
NM_003730.4:c.705C>G	NP_003721.2:p.Ser235Arg
NM_003730.5:c.705C>G	NP_003721.2:p.Ser235Arg
ENST00000028008.9:c.*493C>G	ENSP00000028008.5:n.*493C>G
ENST00000366855.10:c.591C>G	ENSP00000424947.1:p.Ser197Arg
ENST00000421787.5:c.*1059C>G	ENSP00000390833.1:n.*1059C>G
ENST00000467705.6:n.503C>G
ENST00000476238.6:c.705C>G	ENSP00000422846.1:p.Ser235Arg
ENST00000478180.6:c.705C>G	ENSP00000426059.1:p.Ser235Arg
ENST00000507747.1:c.434+4437C>G
ENST00000508775.5:c.705C>G	ENSP00000426455.1:p.Ser235Arg
ENST00000510083.1:n.2144C>G
ENST00000611959.2:c.*493C>G	ENSP00000480244.2:n.*493C>G
ENST00000620173.4:c.855C>G	ENSP00000482755.1:p.Ser285Arg
ENST00000620173.5:c.591C>G	ENSP00000482755.2:p.Ser197Arg
ENST00000682498.1:n.2823C>G
ENST00000682774.1:c.*546C>G	ENSP00000507399.1:n.*546C>G
ENST00000683770.1:c.459C>G	ENSP00000507710.1:p.Ser153Arg
ENST00000683968.1:n.3197C>G
ENST00000684236.1:c.429C>G	ENSP00000508128.1:p.Ser143Arg
XM_017011397.1:c.591C>G	XP_016866886.1:p.Ser197Arg
XM_017011398.1:c.429C>G	XP_016866887.1:p.Ser143Arg
XM_017011399.1:c.*170C>G	XP_016866888.1:n.*170C>G
XM_024446575.1:c.429C>G	XP_024302343.1:p.Ser143Arg
XM_024446576.1:c.429C>G	XP_024302344.1:p.Ser143Arg