Canonical Allele Identifier: CA507818704

Linked Data

MyVariant Identifiers: chr19:g.45992768C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489510C>G , CM000681.2:g.45489510C>G GRCh38
NC_000019.9:g.45992768C>G , CM000681.1:g.45992768C>G GRCh37
NC_000019.8:g.50684608C>G NCBI36
NG_032157.1:g.12544G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000245923.9:c.1077G>C (RTN2) MANE Select ENSP00000245923.3:p.Val359=
ENST00000245923.8:c.1077G>C (RTN2) ENSP00000245923.3:p.Val359=
ENST00000344680.8:c.858G>C (RTN2) ENSP00000345127.3:p.Val286=
ENST00000401705.5:c.-16+531C>G (PPM1N) ENSP00000384318.1:n.-16+531C>G
ENST00000430715.6:c.57G>C (RTN2) ENSP00000398178.1:p.Val19=
ENST00000587597.5:c.1077G>C (RTN2) ENSP00000468144.1:p.Val359=
ENST00000588036.5:n.80-524G>C (RTN2)
ENST00000589628.1:n.44G>C (RTN2)
ENST00000590526.5:c.255G>C (RTN2) ENSP00000466619.1:p.Val85=
ENST00000590746.5:n.62-3397G>C (RTN2)
ENST00000591286.5:c.*75G>C (RTN2) ENSP00000467863.1:n.*75G>C
NM_005619.4:c.1077G>C (RTN2) NP_005610.1:p.Val359=
NM_206900.2:c.858G>C (RTN2) NP_996783.1:p.Val286=
NM_206901.2:c.57G>C (RTN2) NP_996784.1:p.Val19=
NM_005619.5:c.1077G>C (RTN2) MANE Select NP_005610.1:p.Val359=
NM_206900.3:c.858G>C (RTN2) NP_996783.1:p.Val286=
NM_206901.3:c.57G>C (RTN2) NP_996784.1:p.Val19=