Canonical Allele Identifier: CA2693550324
Gene: RP2 HGNC NCBI

Linked Data

gnomAD v4: X-46836983-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836983G>A , CM000685.2:g.46836983G>A GRCh38
NC_000023.10:g.46696418G>A , CM000685.1:g.46696418G>A GRCh37
NC_000023.9:g.46581362G>A NCBI36
NG_009107.1:g.5072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-118G>A ENSP00000218340.3:n.-118G>A
NM_006915.2:c.-118G>A NP_008846.2:n.-118G>A