Canonical Allele Identifier: CA406356385

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489406A>T , CM000681.2:g.45489406A>T GRCh38
NC_000019.9:g.45992664A>T , CM000681.1:g.45992664A>T GRCh37
NC_000019.8:g.50684504A>T NCBI36
NG_032157.1:g.12648T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1181T>A (RTN2) MANE Select ENSP00000245923.3:p.Leu394His
ENST00000245923.8:c.1181T>A (RTN2) ENSP00000245923.3:p.Leu394His
ENST00000344680.8:c.962T>A (RTN2) ENSP00000345127.3:p.Leu321His
ENST00000401705.5:c.-16+427A>T (PPM1N) ENSP00000384318.1:n.-16+427A>T
ENST00000430715.6:c.161T>A (RTN2) ENSP00000398178.1:p.Leu54His
ENST00000587597.5:c.1181T>A (RTN2) ENSP00000468144.1:p.Leu394His
ENST00000588036.5:n.80-420T>A (RTN2)
ENST00000589628.1:n.148T>A (RTN2)
ENST00000590526.5:c.359T>A (RTN2) ENSP00000466619.1:p.Leu120His
ENST00000590746.5:n.62-3293T>A (RTN2)
ENST00000591286.5:c.*179T>A (RTN2) ENSP00000467863.1:n.*179T>A
NM_005619.4:c.1181T>A (RTN2) NP_005610.1:p.Leu394His
NM_206900.2:c.962T>A (RTN2) NP_996783.1:p.Leu321His
NM_206901.2:c.161T>A (RTN2) NP_996784.1:p.Leu54His
NM_005619.5:c.1181T>A (RTN2) MANE Select NP_005610.1:p.Leu394His
NM_206900.3:c.962T>A (RTN2) NP_996783.1:p.Leu321His
NM_206901.3:c.161T>A (RTN2) NP_996784.1:p.Leu54His