Canonical Allele Identifier: CA2693550298
Gene: RP2 HGNC NCBI

Linked Data

gnomAD v4: X-46836958-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836958G>A , CM000685.2:g.46836958G>A GRCh38
NC_000023.10:g.46696393G>A , CM000685.1:g.46696393G>A GRCh37
NC_000023.9:g.46581337G>A NCBI36
NG_009107.1:g.5047G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-143G>A ENSP00000218340.3:n.-143G>A
NM_006915.2:c.-143G>A NP_008846.2:n.-143G>A
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