Canonical Allele Identifier: CA1132850947
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs1924511570
gnomAD v3: X-46836977-C-T
gnomAD v4: X-46836977-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836977C>T , CM000685.2:g.46836977C>T GRCh38
NC_000023.10:g.46696412C>T , CM000685.1:g.46696412C>T GRCh37
NC_000023.9:g.46581356C>T NCBI36
NG_009107.1:g.5066C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-124C>T ENSP00000218340.3:n.-124C>T
NM_006915.2:c.-124C>T NP_008846.2:n.-124C>T
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