Canonical Allele Identifier: CA255304
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10549
ClinVar RCV Id: RCV000011295
dbSNP Id: rs28933687

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853726G>T , CM000685.2:g.46853726G>T GRCh38
NC_000023.10:g.46713161G>T , CM000685.1:g.46713161G>T GRCh37
NC_000023.9:g.46598105G>T NCBI36
NG_009107.1:g.21815G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.353G>T MANE Select ENSP00000218340.3:p.Arg118Leu
ENST00000218340.3:c.353G>T ENSP00000218340.3:p.Arg118Leu
NM_006915.2:c.353G>T NP_008846.2:p.Arg118Leu
NM_006915.3:c.353G>T MANE Select NP_008846.2:p.Arg118Leu