Canonical Allele Identifier: CA1132850951
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs1924512742
gnomAD v3: X-46836991-C-G
gnomAD v4: X-46836991-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836991C>G , CM000685.2:g.46836991C>G GRCh38
NC_000023.10:g.46696426C>G , CM000685.1:g.46696426C>G GRCh37
NC_000023.9:g.46581370C>G NCBI36
NG_009107.1:g.5080C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-110C>G ENSP00000218340.3:n.-110C>G
NM_006915.2:c.-110C>G NP_008846.2:n.-110C>G
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