Canonical Allele Identifier: CA329690600

Gene: RP2

Linked Data

• dbSNP Id: rs988883053
• gnomAD v4: X-46836968-G-C
• MyVariant Identifiers: chrX:g.46836968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46836968G>C , CM000685.2:g.46836968G>C	GRCh38
NC_000023.10:g.46696403G>C , CM000685.1:g.46696403G>C	GRCh37
NC_000023.9:g.46581347G>C	NCBI36
NG_009107.1:g.5057G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.3:c.-133G>C	ENSP00000218340.3:n.-133G>C
NM_006915.2:c.-133G>C	NP_008846.2:n.-133G>C