Canonical Allele Identifier: CA406357181

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489523C>A , CM000681.2:g.45489523C>A GRCh38
NC_000019.9:g.45992781C>A , CM000681.1:g.45992781C>A GRCh37
NC_000019.8:g.50684621C>A NCBI36
NG_032157.1:g.12531G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1064G>T (RTN2) MANE Select ENSP00000245923.3:p.Arg355Met
ENST00000245923.8:c.1064G>T (RTN2) ENSP00000245923.3:p.Arg355Met
ENST00000344680.8:c.845G>T (RTN2) ENSP00000345127.3:p.Arg282Met
ENST00000401705.5:c.-16+544C>A (PPM1N) ENSP00000384318.1:n.-16+544C>A
ENST00000430715.6:c.44G>T (RTN2) ENSP00000398178.1:p.Arg15Met
ENST00000587597.5:c.1064G>T (RTN2) ENSP00000468144.1:p.Arg355Met
ENST00000588036.5:n.80-537G>T (RTN2)
ENST00000589628.1:n.31G>T (RTN2)
ENST00000590526.5:c.242G>T (RTN2) ENSP00000466619.1:p.Arg81Met
ENST00000590746.5:n.62-3410G>T (RTN2)
ENST00000591286.5:c.*62G>T (RTN2) ENSP00000467863.1:n.*62G>T
NM_005619.4:c.1064G>T (RTN2) NP_005610.1:p.Arg355Met
NM_206900.2:c.845G>T (RTN2) NP_996783.1:p.Arg282Met
NM_206901.2:c.44G>T (RTN2) NP_996784.1:p.Arg15Met
NM_005619.5:c.1064G>T (RTN2) MANE Select NP_005610.1:p.Arg355Met
NM_206900.3:c.845G>T (RTN2) NP_996783.1:p.Arg282Met
NM_206901.3:c.44G>T (RTN2) NP_996784.1:p.Arg15Met