Canonical Allele Identifier: CA366409489
Community Standard Title: NM_003730.6(RNASET2):c.504T>A (p.Phe168Leu)
Gene: RNASET2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.166931107A>T , CM000668.2:g.166931107A>T GRCh38
NC_000006.11:g.167344595A>T , CM000668.1:g.167344595A>T GRCh37
NC_000006.10:g.167264585A>T NCBI36
NG_016280.1:g.30483T>A
NG_016280.2:g.30483T>A

Transcript Alleles

HGVS Amino-acid Change
NM_003730.6:c.504T>A MANE Select NP_003721.2:p.Phe168Leu
ENST00000508775.6:c.504T>A MANE Select ENSP00000426455.2:p.Phe168Leu
NM_003730.4:c.504T>A NP_003721.2:p.Phe168Leu
NM_003730.5:c.504T>A NP_003721.2:p.Phe168Leu
ENST00000028008.9:c.*292T>A ENSP00000028008.5:n.*292T>A
ENST00000366855.10:c.390T>A ENSP00000424947.1:p.Phe130Leu
ENST00000421787.5:c.*858T>A ENSP00000390833.1:n.*858T>A
ENST00000467705.6:n.302T>A
ENST00000476238.6:c.504T>A ENSP00000422846.1:p.Phe168Leu
ENST00000478180.6:c.504T>A ENSP00000426059.1:p.Phe168Leu
ENST00000507747.1:c.434+2984T>A
ENST00000508775.5:c.504T>A ENSP00000426455.1:p.Phe168Leu
ENST00000510083.1:n.1943T>A
ENST00000611959.2:c.*292T>A ENSP00000480244.2:n.*292T>A
ENST00000620173.4:c.654T>A ENSP00000482755.1:p.Phe218Leu
ENST00000620173.5:c.390T>A ENSP00000482755.2:p.Phe130Leu
ENST00000682498.1:n.2622T>A
ENST00000682774.1:c.*345T>A ENSP00000507399.1:n.*345T>A
ENST00000683770.1:c.258T>A ENSP00000507710.1:p.Phe86Leu
ENST00000683968.1:n.2996T>A
ENST00000684236.1:c.228T>A ENSP00000508128.1:p.Phe76Leu
XM_017011397.1:c.390T>A XP_016866886.1:p.Phe130Leu
XM_017011398.1:c.228T>A XP_016866887.1:p.Phe76Leu
XM_017011399.1:c.458T>A XP_016866888.1:p.Leu153Ter
XM_024446575.1:c.228T>A XP_024302343.1:p.Phe76Leu
XM_024446576.1:c.228T>A XP_024302344.1:p.Phe76Leu