Canonical Allele Identifier: CA875784010

Gene: RP2

Linked Data

• dbSNP Id: rs1346813814
• gnomAD v3: X-46837008-A-C
• gnomAD v4: X-46837008-A-C
• MyVariant Identifiers: chrX:g.46837008A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46837008A>C , CM000685.2:g.46837008A>C	GRCh38
NC_000023.10:g.46696443A>C , CM000685.1:g.46696443A>C	GRCh37
NC_000023.9:g.46581387A>C	NCBI36
NG_009107.1:g.5097A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.3:c.-93A>C	ENSP00000218340.3:n.-93A>C
NM_006915.2:c.-93A>C	NP_008846.2:n.-93A>C