Canonical Allele Identifier: CA406356246

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489382T>A , CM000681.2:g.45489382T>A GRCh38
NC_000019.9:g.45992640T>A , CM000681.1:g.45992640T>A GRCh37
NC_000019.8:g.50684480T>A NCBI36
NG_032157.1:g.12672A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1205A>T (RTN2) MANE Select ENSP00000245923.3:p.Gln402Leu
ENST00000245923.8:c.1205A>T (RTN2) ENSP00000245923.3:p.Gln402Leu
ENST00000344680.8:c.986A>T (RTN2) ENSP00000345127.3:p.Gln329Leu
ENST00000401705.5:c.-16+403T>A (PPM1N) ENSP00000384318.1:n.-16+403T>A
ENST00000430715.6:c.185A>T (RTN2) ENSP00000398178.1:p.Gln62Leu
ENST00000587597.5:c.1205A>T (RTN2) ENSP00000468144.1:p.Gln402Leu
ENST00000588036.5:n.80-396A>T (RTN2)
ENST00000589628.1:n.172A>T (RTN2)
ENST00000590526.5:c.383A>T (RTN2) ENSP00000466619.1:p.Gln128Leu
ENST00000590746.5:n.62-3269A>T (RTN2)
ENST00000591286.5:c.*203A>T (RTN2) ENSP00000467863.1:n.*203A>T
NM_005619.4:c.1205A>T (RTN2) NP_005610.1:p.Gln402Leu
NM_206900.2:c.986A>T (RTN2) NP_996783.1:p.Gln329Leu
NM_206901.2:c.185A>T (RTN2) NP_996784.1:p.Gln62Leu
NM_005619.5:c.1205A>T (RTN2) MANE Select NP_005610.1:p.Gln402Leu
NM_206900.3:c.986A>T (RTN2) NP_996783.1:p.Gln329Leu
NM_206901.3:c.185A>T (RTN2) NP_996784.1:p.Gln62Leu