Canonical Allele Identifier: CA2693550332
Gene: RP2 HGNC NCBI

Linked Data

gnomAD v4: X-46836990-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836990C>G , CM000685.2:g.46836990C>G GRCh38
NC_000023.10:g.46696425C>G , CM000685.1:g.46696425C>G GRCh37
NC_000023.9:g.46581369C>G NCBI36
NG_009107.1:g.5079C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-111C>G ENSP00000218340.3:n.-111C>G
NM_006915.2:c.-111C>G NP_008846.2:n.-111C>G
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