Canonical Allele Identifier: CA406362879
Community Standard Title: NM_005619.5(RTN2):c.148G>T (p.Glu50Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45494937C>A , CM000681.2:g.45494937C>A GRCh38
NC_000019.9:g.45998195C>A , CM000681.1:g.45998195C>A GRCh37
NC_000019.8:g.50690035C>A NCBI36
NG_032157.1:g.7117G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005619.5:c.148G>T (RTN2) MANE Select NP_005610.1:p.Glu50Ter
ENST00000245923.9:c.148G>T (RTN2) MANE Select ENSP00000245923.3:p.Glu50Ter
NM_005619.4:c.148G>T (RTN2) NP_005610.1:p.Glu50Ter
NM_206900.2:c.148G>T (RTN2) NP_996783.1:p.Glu50Ter
NM_206900.3:c.148G>T (RTN2) NP_996783.1:p.Glu50Ter
ENST00000245923.8:c.148G>T (RTN2) ENSP00000245923.3:p.Glu50Ter
ENST00000344680.8:c.148G>T (RTN2) ENSP00000345127.3:p.Glu50Ter
ENST00000401705.5:c.-15-5012C>A (PPM1N) ENSP00000384318.1:n.-15-5012C>A
ENST00000587597.5:c.148G>T (RTN2) ENSP00000468144.1:p.Glu50Ter
ENST00000589384.1:n.207G>T (RTN2)
ENST00000590526.5:c.-675G>T (RTN2) ENSP00000466619.1:n.-675G>T
ENST00000591286.5:c.148G>T (RTN2) ENSP00000467863.1:p.Glu50Ter