Canonical Allele Identifier: CA9516054
Community Standard Title: NM_005619.5(RTN2):c.1217G>A (p.Arg406Gln)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489370C>T , CM000681.2:g.45489370C>T GRCh38
NC_000019.9:g.45992628C>T , CM000681.1:g.45992628C>T GRCh37
NC_000019.8:g.50684468C>T NCBI36
NG_032157.1:g.12684G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005619.5:c.1217G>A (RTN2) MANE Select NP_005610.1:p.Arg406Gln
ENST00000245923.9:c.1217G>A (RTN2) MANE Select ENSP00000245923.3:p.Arg406Gln
NM_005619.4:c.1217G>A (RTN2) NP_005610.1:p.Arg406Gln
NM_206900.2:c.998G>A (RTN2) NP_996783.1:p.Arg333Gln
NM_206900.3:c.998G>A (RTN2) NP_996783.1:p.Arg333Gln
NM_206901.2:c.197G>A (RTN2) NP_996784.1:p.Arg66Gln
NM_206901.3:c.197G>A (RTN2) NP_996784.1:p.Arg66Gln
ENST00000245923.8:c.1217G>A (RTN2) ENSP00000245923.3:p.Arg406Gln
ENST00000344680.8:c.998G>A (RTN2) ENSP00000345127.3:p.Arg333Gln
ENST00000401705.5:c.-16+391C>T (PPM1N) ENSP00000384318.1:n.-16+391C>T
ENST00000430715.6:c.197G>A (RTN2) ENSP00000398178.1:p.Arg66Gln
ENST00000587597.5:c.1217G>A (RTN2) ENSP00000468144.1:p.Arg406Gln
ENST00000588036.5:n.80-384G>A (RTN2)
ENST00000589628.1:n.184G>A (RTN2)
ENST00000590526.5:c.395G>A (RTN2) ENSP00000466619.1:p.Arg132Gln
ENST00000590746.5:n.62-3257G>A (RTN2)
ENST00000591286.5:c.*215G>A (RTN2) ENSP00000467863.1:n.*215G>A