Canonical Allele Identifier: CA406356302

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489392T>G , CM000681.2:g.45489392T>G GRCh38
NC_000019.9:g.45992650T>G , CM000681.1:g.45992650T>G GRCh37
NC_000019.8:g.50684490T>G NCBI36
NG_032157.1:g.12662A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000245923.9:c.1195A>C (RTN2) MANE Select ENSP00000245923.3:p.Lys399Gln
ENST00000245923.8:c.1195A>C (RTN2) ENSP00000245923.3:p.Lys399Gln
ENST00000344680.8:c.976A>C (RTN2) ENSP00000345127.3:p.Lys326Gln
ENST00000401705.5:c.-16+413T>G (PPM1N) ENSP00000384318.1:n.-16+413T>G
ENST00000430715.6:c.175A>C (RTN2) ENSP00000398178.1:p.Lys59Gln
ENST00000587597.5:c.1195A>C (RTN2) ENSP00000468144.1:p.Lys399Gln
ENST00000588036.5:n.80-406A>C (RTN2)
ENST00000589628.1:n.162A>C (RTN2)
ENST00000590526.5:c.373A>C (RTN2) ENSP00000466619.1:p.Lys125Gln
ENST00000590746.5:n.62-3279A>C (RTN2)
ENST00000591286.5:c.*193A>C (RTN2) ENSP00000467863.1:n.*193A>C
NM_005619.4:c.1195A>C (RTN2) NP_005610.1:p.Lys399Gln
NM_206900.2:c.976A>C (RTN2) NP_996783.1:p.Lys326Gln
NM_206901.2:c.175A>C (RTN2) NP_996784.1:p.Lys59Gln
NM_005619.5:c.1195A>C (RTN2) MANE Select NP_005610.1:p.Lys399Gln
NM_206900.3:c.976A>C (RTN2) NP_996783.1:p.Lys326Gln
NM_206901.3:c.175A>C (RTN2) NP_996784.1:p.Lys59Gln