Canonical Allele Identifier: CA406360261

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45494190A>G , CM000681.2:g.45494190A>G GRCh38
NC_000019.9:g.45997448A>G , CM000681.1:g.45997448A>G GRCh37
NC_000019.8:g.50689288A>G NCBI36
NG_032157.1:g.7864T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.790T>C (RTN2) MANE Select ENSP00000245923.3:p.Phe264Leu
ENST00000245923.8:c.790T>C (RTN2) ENSP00000245923.3:p.Phe264Leu
ENST00000344680.8:c.790T>C (RTN2) ENSP00000345127.3:p.Phe264Leu
ENST00000401705.5:c.-16+5211A>G (PPM1N) ENSP00000384318.1:n.-16+5211A>G
ENST00000587597.5:c.790T>C (RTN2) ENSP00000468144.1:p.Phe264Leu
ENST00000590526.5:c.-33T>C (RTN2) ENSP00000466619.1:n.-33T>C
ENST00000591286.5:c.790T>C (RTN2) ENSP00000467863.1:p.Phe264Leu
ENST00000592064.1:n.611T>C (RTN2)
NM_005619.4:c.790T>C (RTN2) NP_005610.1:p.Phe264Leu
NM_206900.2:c.790T>C (RTN2) NP_996783.1:p.Phe264Leu
NM_005619.5:c.790T>C (RTN2) MANE Select NP_005610.1:p.Phe264Leu
NM_206900.3:c.790T>C (RTN2) NP_996783.1:p.Phe264Leu