Canonical Allele Identifier: CA255305
Gene: RP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10551
dbSNP Id: rs104894927

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853731C>T , CM000685.2:g.46853731C>T GRCh38
NC_000023.9:g.46598110C>T NCBI36
NC_000023.10:g.46713166C>T , CM000685.1:g.46713166C>T GRCh37
NG_009107.1:g.21820C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.3:c.358C>T ENSP00000218340.3:p.Arg120Ter
NM_006915.2:c.358C>T VV NP_008846.2:p.Arg120Ter