Canonical Allele Identifier: CA406357121

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489511A>T , CM000681.2:g.45489511A>T GRCh38
NC_000019.9:g.45992769A>T , CM000681.1:g.45992769A>T GRCh37
NC_000019.8:g.50684609A>T NCBI36
NG_032157.1:g.12543T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000245923.9:c.1076T>A (RTN2) MANE Select ENSP00000245923.3:p.Val359Glu
ENST00000245923.8:c.1076T>A (RTN2) ENSP00000245923.3:p.Val359Glu
ENST00000344680.8:c.857T>A (RTN2) ENSP00000345127.3:p.Val286Glu
ENST00000401705.5:c.-16+532A>T (PPM1N) ENSP00000384318.1:n.-16+532A>T
ENST00000430715.6:c.56T>A (RTN2) ENSP00000398178.1:p.Val19Glu
ENST00000587597.5:c.1076T>A (RTN2) ENSP00000468144.1:p.Val359Glu
ENST00000588036.5:n.80-525T>A (RTN2)
ENST00000589628.1:n.43T>A (RTN2)
ENST00000590526.5:c.254T>A (RTN2) ENSP00000466619.1:p.Val85Glu
ENST00000590746.5:n.62-3398T>A (RTN2)
ENST00000591286.5:c.*74T>A (RTN2) ENSP00000467863.1:n.*74T>A
NM_005619.4:c.1076T>A (RTN2) NP_005610.1:p.Val359Glu
NM_206900.2:c.857T>A (RTN2) NP_996783.1:p.Val286Glu
NM_206901.2:c.56T>A (RTN2) NP_996784.1:p.Val19Glu
NM_005619.5:c.1076T>A (RTN2) MANE Select NP_005610.1:p.Val359Glu
NM_206900.3:c.857T>A (RTN2) NP_996783.1:p.Val286Glu
NM_206901.3:c.56T>A (RTN2) NP_996784.1:p.Val19Glu