Canonical Allele Identifier: CA2693550295
Gene: RP2 HGNC NCBI

Linked Data

gnomAD v4: X-46836954-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836954G>C , CM000685.2:g.46836954G>C GRCh38
NC_000023.10:g.46696389G>C , CM000685.1:g.46696389G>C GRCh37
NC_000023.9:g.46581333G>C NCBI36
NG_009107.1:g.5043G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-147G>C ENSP00000218340.3:n.-147G>C
NM_006915.2:c.-147G>C NP_008846.2:n.-147G>C
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