Canonical Allele Identifier: CA507818699

Linked Data

MyVariant Identifiers: chr19:g.45992762G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489504G>A , CM000681.2:g.45489504G>A GRCh38
NC_000019.9:g.45992762G>A , CM000681.1:g.45992762G>A GRCh37
NC_000019.8:g.50684602G>A NCBI36
NG_032157.1:g.12550C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1083C>T (RTN2) MANE Select ENSP00000245923.3:p.Phe361=
ENST00000245923.8:c.1083C>T (RTN2) ENSP00000245923.3:p.Phe361=
ENST00000344680.8:c.864C>T (RTN2) ENSP00000345127.3:p.Phe288=
ENST00000401705.5:c.-16+525G>A (PPM1N) ENSP00000384318.1:n.-16+525G>A
ENST00000430715.6:c.63C>T (RTN2) ENSP00000398178.1:p.Phe21=
ENST00000587597.5:c.1083C>T (RTN2) ENSP00000468144.1:p.Phe361=
ENST00000588036.5:n.80-518C>T (RTN2)
ENST00000589628.1:n.50C>T (RTN2)
ENST00000590526.5:c.261C>T (RTN2) ENSP00000466619.1:p.Phe87=
ENST00000590746.5:n.62-3391C>T (RTN2)
ENST00000591286.5:c.*81C>T (RTN2) ENSP00000467863.1:n.*81C>T
NM_005619.4:c.1083C>T (RTN2) NP_005610.1:p.Phe361=
NM_206900.2:c.864C>T (RTN2) NP_996783.1:p.Phe288=
NM_206901.2:c.63C>T (RTN2) NP_996784.1:p.Phe21=
NM_005619.5:c.1083C>T (RTN2) MANE Select NP_005610.1:p.Phe361=
NM_206900.3:c.864C>T (RTN2) NP_996783.1:p.Phe288=
NM_206901.3:c.63C>T (RTN2) NP_996784.1:p.Phe21=