Canonical Allele Identifier: CA507818701

Linked Data

MyVariant Identifiers: chr19:g.45992765G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489507G>C , CM000681.2:g.45489507G>C GRCh38
NC_000019.9:g.45992765G>C , CM000681.1:g.45992765G>C GRCh37
NC_000019.8:g.50684605G>C NCBI36
NG_032157.1:g.12547C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000245923.9:c.1080C>G (RTN2) MANE Select ENSP00000245923.3:p.Val360=
ENST00000245923.8:c.1080C>G (RTN2) ENSP00000245923.3:p.Val360=
ENST00000344680.8:c.861C>G (RTN2) ENSP00000345127.3:p.Val287=
ENST00000401705.5:c.-16+528G>C (PPM1N) ENSP00000384318.1:n.-16+528G>C
ENST00000430715.6:c.60C>G (RTN2) ENSP00000398178.1:p.Val20=
ENST00000587597.5:c.1080C>G (RTN2) ENSP00000468144.1:p.Val360=
ENST00000588036.5:n.80-521C>G (RTN2)
ENST00000589628.1:n.47C>G (RTN2)
ENST00000590526.5:c.258C>G (RTN2) ENSP00000466619.1:p.Val86=
ENST00000590746.5:n.62-3394C>G (RTN2)
ENST00000591286.5:c.*78C>G (RTN2) ENSP00000467863.1:n.*78C>G
NM_005619.4:c.1080C>G (RTN2) NP_005610.1:p.Val360=
NM_206900.2:c.861C>G (RTN2) NP_996783.1:p.Val287=
NM_206901.2:c.60C>G (RTN2) NP_996784.1:p.Val20=
NM_005619.5:c.1080C>G (RTN2) MANE Select NP_005610.1:p.Val360=
NM_206900.3:c.861C>G (RTN2) NP_996783.1:p.Val287=
NM_206901.3:c.60C>G (RTN2) NP_996784.1:p.Val20=