Canonical Allele Identifier: CA406357226

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489532T>A , CM000681.2:g.45489532T>A GRCh38
NC_000019.9:g.45992790T>A , CM000681.1:g.45992790T>A GRCh37
NC_000019.8:g.50684630T>A NCBI36
NG_032157.1:g.12522A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1055A>T (RTN2) MANE Select ENSP00000245923.3:p.Lys352Met
ENST00000245923.8:c.1055A>T (RTN2) ENSP00000245923.3:p.Lys352Met
ENST00000344680.8:c.836A>T (RTN2) ENSP00000345127.3:p.Lys279Met
ENST00000401705.5:c.-16+553T>A (PPM1N) ENSP00000384318.1:n.-16+553T>A
ENST00000430715.6:c.35A>T (RTN2) ENSP00000398178.1:p.Lys12Met
ENST00000587597.5:c.1055A>T (RTN2) ENSP00000468144.1:p.Lys352Met
ENST00000588036.5:n.80-546A>T (RTN2)
ENST00000589628.1:n.22A>T (RTN2)
ENST00000590526.5:c.233A>T (RTN2) ENSP00000466619.1:p.Lys78Met
ENST00000590746.5:n.62-3419A>T (RTN2)
ENST00000591286.5:c.*53A>T (RTN2) ENSP00000467863.1:n.*53A>T
NM_005619.4:c.1055A>T (RTN2) NP_005610.1:p.Lys352Met
NM_206900.2:c.836A>T (RTN2) NP_996783.1:p.Lys279Met
NM_206901.2:c.35A>T (RTN2) NP_996784.1:p.Lys12Met
NM_005619.5:c.1055A>T (RTN2) MANE Select NP_005610.1:p.Lys352Met
NM_206900.3:c.836A>T (RTN2) NP_996783.1:p.Lys279Met
NM_206901.3:c.35A>T (RTN2) NP_996784.1:p.Lys12Met