Canonical Allele Identifier: CA507818504

Linked Data

MyVariant Identifiers: chr19:g.45992672G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489414G>T , CM000681.2:g.45489414G>T GRCh38
NC_000019.9:g.45992672G>T , CM000681.1:g.45992672G>T GRCh37
NC_000019.8:g.50684512G>T NCBI36
NG_032157.1:g.12640C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245923.9:c.1173C>A (RTN2) MANE Select ENSP00000245923.3:p.Thr391=
ENST00000245923.8:c.1173C>A (RTN2) ENSP00000245923.3:p.Thr391=
ENST00000344680.8:c.954C>A (RTN2) ENSP00000345127.3:p.Thr318=
ENST00000401705.5:c.-16+435G>T (PPM1N) ENSP00000384318.1:n.-16+435G>T
ENST00000430715.6:c.153C>A (RTN2) ENSP00000398178.1:p.Thr51=
ENST00000587597.5:c.1173C>A (RTN2) ENSP00000468144.1:p.Thr391=
ENST00000588036.5:n.80-428C>A (RTN2)
ENST00000589628.1:n.140C>A (RTN2)
ENST00000590526.5:c.351C>A (RTN2) ENSP00000466619.1:p.Thr117=
ENST00000590746.5:n.62-3301C>A (RTN2)
ENST00000591286.5:c.*171C>A (RTN2) ENSP00000467863.1:n.*171C>A
NM_005619.4:c.1173C>A (RTN2) NP_005610.1:p.Thr391=
NM_206900.2:c.954C>A (RTN2) NP_996783.1:p.Thr318=
NM_206901.2:c.153C>A (RTN2) NP_996784.1:p.Thr51=
NM_005619.5:c.1173C>A (RTN2) MANE Select NP_005610.1:p.Thr391=
NM_206900.3:c.954C>A (RTN2) NP_996783.1:p.Thr318=
NM_206901.3:c.153C>A (RTN2) NP_996784.1:p.Thr51=