Canonical Allele Identifier: CA4094825
Community Standard Title: NM_003730.6(RNASET2):c.652G>A (p.Glu218Lys)
Gene: RNASET2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.166929707C>T , CM000668.2:g.166929707C>T GRCh38
NC_000006.11:g.167343195C>T , CM000668.1:g.167343195C>T GRCh37
NC_000006.10:g.167263185C>T NCBI36
NG_016280.1:g.31883G>A
NG_016280.2:g.31883G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003730.6:c.652G>A MANE Select NP_003721.2:p.Glu218Lys
ENST00000508775.6:c.652G>A MANE Select ENSP00000426455.2:p.Glu218Lys
NM_003730.4:c.652G>A NP_003721.2:p.Glu218Lys
NM_003730.5:c.652G>A NP_003721.2:p.Glu218Lys
ENST00000028008.9:c.*440G>A ENSP00000028008.5:n.*440G>A
ENST00000366855.10:c.538G>A ENSP00000424947.1:p.Glu180Lys
ENST00000421787.5:c.*1006G>A ENSP00000390833.1:n.*1006G>A
ENST00000467705.6:n.450G>A
ENST00000476238.6:c.652G>A ENSP00000422846.1:p.Glu218Lys
ENST00000478180.6:c.652G>A ENSP00000426059.1:p.Glu218Lys
ENST00000507747.1:c.434+4384G>A
ENST00000508775.5:c.652G>A ENSP00000426455.1:p.Glu218Lys
ENST00000510083.1:n.2091G>A
ENST00000611959.2:c.*440G>A ENSP00000480244.2:n.*440G>A
ENST00000620173.4:c.802G>A ENSP00000482755.1:p.Glu268Lys
ENST00000620173.5:c.538G>A ENSP00000482755.2:p.Glu180Lys
ENST00000682498.1:n.2770G>A
ENST00000682774.1:c.*493G>A ENSP00000507399.1:n.*493G>A
ENST00000683770.1:c.406G>A ENSP00000507710.1:p.Glu136Lys
ENST00000683968.1:n.3144G>A
ENST00000684236.1:c.376G>A ENSP00000508128.1:p.Glu126Lys
XM_017011397.1:c.538G>A XP_016866886.1:p.Glu180Lys
XM_017011398.1:c.376G>A XP_016866887.1:p.Glu126Lys
XM_017011399.1:c.*117G>A XP_016866888.1:n.*117G>A
XM_024446575.1:c.376G>A XP_024302343.1:p.Glu126Lys
XM_024446576.1:c.376G>A XP_024302344.1:p.Glu126Lys