Canonical Allele Identifier: CA329690602
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs781991288
gnomAD v2: X-46696415-T-C
gnomAD v3: X-46836980-T-C
gnomAD v4: X-46836980-T-C
MyVariant Identifiers: chrX:g.46696415T>C (hg19) chrX:g.46836980T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836980T>C , CM000685.2:g.46836980T>C GRCh38
NC_000023.10:g.46696415T>C , CM000685.1:g.46696415T>C GRCh37
NC_000023.9:g.46581359T>C NCBI36
NG_009107.1:g.5069T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-121T>C ENSP00000218340.3:n.-121T>C
NM_006915.2:c.-121T>C NP_008846.2:n.-121T>C
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