Canonical Allele Identifier: CA875783973
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs1385158119
gnomAD v4: X-46836971-T-G
MyVariant Identifiers: chrX:g.46836971T>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836971T>G , CM000685.2:g.46836971T>G GRCh38
NC_000023.10:g.46696406T>G , CM000685.1:g.46696406T>G GRCh37
NC_000023.9:g.46581350T>G NCBI36
NG_009107.1:g.5060T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-130T>G ENSP00000218340.3:n.-130T>G
NM_006915.2:c.-130T>G NP_008846.2:n.-130T>G