Canonical Allele Identifier: CA507818479

Linked Data

MyVariant Identifiers: chr19:g.45992645C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489387C>G , CM000681.2:g.45489387C>G GRCh38
NC_000019.9:g.45992645C>G , CM000681.1:g.45992645C>G GRCh37
NC_000019.8:g.50684485C>G NCBI36
NG_032157.1:g.12667G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000245923.9:c.1200G>C (RTN2) MANE Select ENSP00000245923.3:p.Val400=
ENST00000245923.8:c.1200G>C (RTN2) ENSP00000245923.3:p.Val400=
ENST00000344680.8:c.981G>C (RTN2) ENSP00000345127.3:p.Val327=
ENST00000401705.5:c.-16+408C>G (PPM1N) ENSP00000384318.1:n.-16+408C>G
ENST00000430715.6:c.180G>C (RTN2) ENSP00000398178.1:p.Val60=
ENST00000587597.5:c.1200G>C (RTN2) ENSP00000468144.1:p.Val400=
ENST00000588036.5:n.80-401G>C (RTN2)
ENST00000589628.1:n.167G>C (RTN2)
ENST00000590526.5:c.378G>C (RTN2) ENSP00000466619.1:p.Val126=
ENST00000590746.5:n.62-3274G>C (RTN2)
ENST00000591286.5:c.*198G>C (RTN2) ENSP00000467863.1:n.*198G>C
NM_005619.4:c.1200G>C (RTN2) NP_005610.1:p.Val400=
NM_206900.2:c.981G>C (RTN2) NP_996783.1:p.Val327=
NM_206901.2:c.180G>C (RTN2) NP_996784.1:p.Val60=
NM_005619.5:c.1200G>C (RTN2) MANE Select NP_005610.1:p.Val400=
NM_206900.3:c.981G>C (RTN2) NP_996783.1:p.Val327=
NM_206901.3:c.180G>C (RTN2) NP_996784.1:p.Val60=