Canonical Allele Identifier: CA875783975
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs1298801152
gnomAD v3: X-46836973-C-G
gnomAD v4: X-46836973-C-G
MyVariant Identifiers: chrX:g.46836973C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836973C>G , CM000685.2:g.46836973C>G GRCh38
NC_000023.10:g.46696408C>G , CM000685.1:g.46696408C>G GRCh37
NC_000023.9:g.46581352C>G NCBI36
NG_009107.1:g.5062C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-128C>G ENSP00000218340.3:n.-128C>G
NM_006915.2:c.-128C>G NP_008846.2:n.-128C>G