Canonical Allele Identifier: CA406356984

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489484A>C , CM000681.2:g.45489484A>C GRCh38
NC_000019.9:g.45992742A>C , CM000681.1:g.45992742A>C GRCh37
NC_000019.8:g.50684582A>C NCBI36
NG_032157.1:g.12570T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1103T>G (RTN2) MANE Select ENSP00000245923.3:p.Leu368Arg
ENST00000245923.8:c.1103T>G (RTN2) ENSP00000245923.3:p.Leu368Arg
ENST00000344680.8:c.884T>G (RTN2) ENSP00000345127.3:p.Leu295Arg
ENST00000401705.5:c.-16+505A>C (PPM1N) ENSP00000384318.1:n.-16+505A>C
ENST00000430715.6:c.83T>G (RTN2) ENSP00000398178.1:p.Leu28Arg
ENST00000587597.5:c.1103T>G (RTN2) ENSP00000468144.1:p.Leu368Arg
ENST00000588036.5:n.80-498T>G (RTN2)
ENST00000589628.1:n.70T>G (RTN2)
ENST00000590526.5:c.281T>G (RTN2) ENSP00000466619.1:p.Leu94Arg
ENST00000590746.5:n.62-3371T>G (RTN2)
ENST00000591286.5:c.*101T>G (RTN2) ENSP00000467863.1:n.*101T>G
NM_005619.4:c.1103T>G (RTN2) NP_005610.1:p.Leu368Arg
NM_206900.2:c.884T>G (RTN2) NP_996783.1:p.Leu295Arg
NM_206901.2:c.83T>G (RTN2) NP_996784.1:p.Leu28Arg
NM_005619.5:c.1103T>G (RTN2) MANE Select NP_005610.1:p.Leu368Arg
NM_206900.3:c.884T>G (RTN2) NP_996783.1:p.Leu295Arg
NM_206901.3:c.83T>G (RTN2) NP_996784.1:p.Leu28Arg