Canonical Allele Identifier: CA129110
Gene: RTN2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 30326
ClinVar RCV Id: RCV000023261
dbSNP Id: rs140494585

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45489487G>A , CM000681.2:g.45489487G>A GRCh38
NC_000019.8:g.50684585G>A NCBI36
NC_000019.9:g.45992745G>A , CM000681.1:g.45992745G>A GRCh37
NG_032157.1:g.12567C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000245923.8:c.1100C>T ENSP00000245923.3:p.Ser367Phe
ENST00000344680.8:c.881C>T ENSP00000345127.3:p.Ser294Phe
ENST00000401705.5:c.-16+508G>A ENSP00000384318.1:p.=
ENST00000430715.6:c.80C>T ENSP00000398178.1:p.Ser27Phe
ENST00000587597.5:c.1100C>T ENSP00000468144.1:p.Ser367Phe
ENST00000588036.5:n.80-501C>T
ENST00000589628.1:n.67C>T
ENST00000590526.5:c.278C>T ENSP00000466619.1:p.Ser93Phe
ENST00000590746.5:n.62-3374C>T
ENST00000591286.5:c.*98C>T ENSP00000467863.1:p.=
NM_005619.4:c.1100C>T VV NP_005610.1:p.Ser367Phe
NM_206900.2:c.881C>T VV NP_996783.1:p.Ser294Phe
NM_206901.2:c.80C>T VV NP_996784.1:p.Ser27Phe