Canonical Allele Identifier: CA406357257

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489537G>T , CM000681.2:g.45489537G>T GRCh38
NC_000019.9:g.45992795G>T , CM000681.1:g.45992795G>T GRCh37
NC_000019.8:g.50684635G>T NCBI36
NG_032157.1:g.12517C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1050C>A (RTN2) MANE Select ENSP00000245923.3:p.Tyr350Ter
ENST00000245923.8:c.1050C>A (RTN2) ENSP00000245923.3:p.Tyr350Ter
ENST00000344680.8:c.831C>A (RTN2) ENSP00000345127.3:p.Tyr277Ter
ENST00000401705.5:c.-16+558G>T (PPM1N) ENSP00000384318.1:n.-16+558G>T
ENST00000430715.6:c.30C>A (RTN2) ENSP00000398178.1:p.Tyr10Ter
ENST00000587597.5:c.1050C>A (RTN2) ENSP00000468144.1:p.Tyr350Ter
ENST00000588036.5:n.80-551C>A (RTN2)
ENST00000589628.1:n.17C>A (RTN2)
ENST00000590526.5:c.228C>A (RTN2) ENSP00000466619.1:p.Tyr76Ter
ENST00000590746.5:n.62-3424C>A (RTN2)
ENST00000591286.5:c.*48C>A (RTN2) ENSP00000467863.1:n.*48C>A
NM_005619.4:c.1050C>A (RTN2) NP_005610.1:p.Tyr350Ter
NM_206900.2:c.831C>A (RTN2) NP_996783.1:p.Tyr277Ter
NM_206901.2:c.30C>A (RTN2) NP_996784.1:p.Tyr10Ter
NM_005619.5:c.1050C>A (RTN2) MANE Select NP_005610.1:p.Tyr350Ter
NM_206900.3:c.831C>A (RTN2) NP_996783.1:p.Tyr277Ter
NM_206901.3:c.30C>A (RTN2) NP_996784.1:p.Tyr10Ter