Canonical Allele Identifier: CA366409497

Gene: RNASET2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.166931109A>G , CM000668.2:g.166931109A>G	GRCh38
NC_000006.11:g.167344597A>G , CM000668.1:g.167344597A>G	GRCh37
NC_000006.10:g.167264587A>G	NCBI36
NG_016280.1:g.30481T>C
NG_016280.2:g.30481T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003730.6:c.502T>C MANE Select	NP_003721.2:p.Phe168Leu
ENST00000508775.6:c.502T>C MANE Select	ENSP00000426455.2:p.Phe168Leu
NM_003730.4:c.502T>C	NP_003721.2:p.Phe168Leu
NM_003730.5:c.502T>C	NP_003721.2:p.Phe168Leu
ENST00000028008.9:c.*290T>C	ENSP00000028008.5:n.*290T>C
ENST00000366855.10:c.388T>C	ENSP00000424947.1:p.Phe130Leu
ENST00000421787.5:c.*856T>C	ENSP00000390833.1:n.*856T>C
ENST00000467705.6:n.300T>C
ENST00000476238.6:c.502T>C	ENSP00000422846.1:p.Phe168Leu
ENST00000478180.6:c.502T>C	ENSP00000426059.1:p.Phe168Leu
ENST00000507747.1:c.434+2982T>C
ENST00000508775.5:c.502T>C	ENSP00000426455.1:p.Phe168Leu
ENST00000510083.1:n.1941T>C
ENST00000611959.2:c.*290T>C	ENSP00000480244.2:n.*290T>C
ENST00000620173.4:c.652T>C	ENSP00000482755.1:p.Phe218Leu
ENST00000620173.5:c.388T>C	ENSP00000482755.2:p.Phe130Leu
ENST00000682498.1:n.2620T>C
ENST00000682774.1:c.*343T>C	ENSP00000507399.1:n.*343T>C
ENST00000683770.1:c.256T>C	ENSP00000507710.1:p.Phe86Leu
ENST00000683968.1:n.2994T>C
ENST00000684236.1:c.226T>C	ENSP00000508128.1:p.Phe76Leu
XM_017011397.1:c.388T>C	XP_016866886.1:p.Phe130Leu
XM_017011398.1:c.226T>C	XP_016866887.1:p.Phe76Leu
XM_017011399.1:c.456T>C	XP_016866888.1:p.Ile152=
XM_024446575.1:c.226T>C	XP_024302343.1:p.Phe76Leu
XM_024446576.1:c.226T>C	XP_024302344.1:p.Phe76Leu