Canonical Allele Identifier: CA329690603

Gene: RP2

Linked Data

• dbSNP Id: rs1020056918
• gnomAD v2: X-46696421-G-A
• gnomAD v3: X-46836986-G-A
• gnomAD v4: X-46836986-G-A
• MyVariant Identifiers: chrX:g.46696421G>A (hg19) ; chrX:g.46836986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46836986G>A , CM000685.2:g.46836986G>A	GRCh38
NC_000023.10:g.46696421G>A , CM000685.1:g.46696421G>A	GRCh37
NC_000023.9:g.46581365G>A	NCBI36
NG_009107.1:g.5075G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.3:c.-115G>A	ENSP00000218340.3:n.-115G>A
NM_006915.2:c.-115G>A	NP_008846.2:n.-115G>A