Canonical Allele Identifier: CA406356358

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489401C>A , CM000681.2:g.45489401C>A GRCh38
NC_000019.9:g.45992659C>A , CM000681.1:g.45992659C>A GRCh37
NC_000019.8:g.50684499C>A NCBI36
NG_032157.1:g.12653G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000245923.9:c.1186G>T (RTN2) MANE Select ENSP00000245923.3:p.Val396Phe
ENST00000245923.8:c.1186G>T (RTN2) ENSP00000245923.3:p.Val396Phe
ENST00000344680.8:c.967G>T (RTN2) ENSP00000345127.3:p.Val323Phe
ENST00000401705.5:c.-16+422C>A (PPM1N) ENSP00000384318.1:n.-16+422C>A
ENST00000430715.6:c.166G>T (RTN2) ENSP00000398178.1:p.Val56Phe
ENST00000587597.5:c.1186G>T (RTN2) ENSP00000468144.1:p.Val396Phe
ENST00000588036.5:n.80-415G>T (RTN2)
ENST00000589628.1:n.153G>T (RTN2)
ENST00000590526.5:c.364G>T (RTN2) ENSP00000466619.1:p.Val122Phe
ENST00000590746.5:n.62-3288G>T (RTN2)
ENST00000591286.5:c.*184G>T (RTN2) ENSP00000467863.1:n.*184G>T
NM_005619.4:c.1186G>T (RTN2) NP_005610.1:p.Val396Phe
NM_206900.2:c.967G>T (RTN2) NP_996783.1:p.Val323Phe
NM_206901.2:c.166G>T (RTN2) NP_996784.1:p.Val56Phe
NM_005619.5:c.1186G>T (RTN2) MANE Select NP_005610.1:p.Val396Phe
NM_206900.3:c.967G>T (RTN2) NP_996783.1:p.Val323Phe
NM_206901.3:c.166G>T (RTN2) NP_996784.1:p.Val56Phe