Canonical Allele Identifier: CA2693550320
Gene: RP2 HGNC NCBI

Linked Data

gnomAD v4: X-46836979-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836979G>T , CM000685.2:g.46836979G>T GRCh38
NC_000023.10:g.46696414G>T , CM000685.1:g.46696414G>T GRCh37
NC_000023.9:g.46581358G>T NCBI36
NG_009107.1:g.5068G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-122G>T ENSP00000218340.3:n.-122G>T
NM_006915.2:c.-122G>T NP_008846.2:n.-122G>T
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