Canonical Allele Identifier: CA10654320
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 368302
ClinVar RCV Id: RCV000300151
dbSNP Id: rs975776959
gnomAD v2: X-46696439-C-T
gnomAD v3: X-46837004-C-T
gnomAD v4: X-46837004-C-T
MyVariant Identifiers: chrX:g.46696439C>T (hg19) chrX:g.46837004C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46837004C>T , CM000685.2:g.46837004C>T GRCh38
NC_000023.10:g.46696439C>T , CM000685.1:g.46696439C>T GRCh37
NC_000023.9:g.46581383C>T NCBI36
NG_009107.1:g.5093C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-97C>T ENSP00000218340.3:n.-97C>T
NM_006915.2:c.-97C>T NP_008846.2:n.-97C>T
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