Canonical Allele Identifier: CA406357241

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489534C>G , CM000681.2:g.45489534C>G GRCh38
NC_000019.9:g.45992792C>G , CM000681.1:g.45992792C>G GRCh37
NC_000019.8:g.50684632C>G NCBI36
NG_032157.1:g.12520G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1053G>C (RTN2) MANE Select ENSP00000245923.3:p.Trp351Cys
ENST00000245923.8:c.1053G>C (RTN2) ENSP00000245923.3:p.Trp351Cys
ENST00000344680.8:c.834G>C (RTN2) ENSP00000345127.3:p.Trp278Cys
ENST00000401705.5:c.-16+555C>G (PPM1N) ENSP00000384318.1:n.-16+555C>G
ENST00000430715.6:c.33G>C (RTN2) ENSP00000398178.1:p.Trp11Cys
ENST00000587597.5:c.1053G>C (RTN2) ENSP00000468144.1:p.Trp351Cys
ENST00000588036.5:n.80-548G>C (RTN2)
ENST00000589628.1:n.20G>C (RTN2)
ENST00000590526.5:c.231G>C (RTN2) ENSP00000466619.1:p.Trp77Cys
ENST00000590746.5:n.62-3421G>C (RTN2)
ENST00000591286.5:c.*51G>C (RTN2) ENSP00000467863.1:n.*51G>C
NM_005619.4:c.1053G>C (RTN2) NP_005610.1:p.Trp351Cys
NM_206900.2:c.834G>C (RTN2) NP_996783.1:p.Trp278Cys
NM_206901.2:c.33G>C (RTN2) NP_996784.1:p.Trp11Cys
NM_005619.5:c.1053G>C (RTN2) MANE Select NP_005610.1:p.Trp351Cys
NM_206900.3:c.834G>C (RTN2) NP_996783.1:p.Trp278Cys
NM_206901.3:c.33G>C (RTN2) NP_996784.1:p.Trp11Cys