Canonical Allele Identifier: CA255301

Gene: RP2

Linked Data

• ClinVar Variation Id: 10546
• ClinVar RCV Id: RCV001215347 ; RCV001075110 ; RCV000011292
• dbSNP Id: rs28933687
• gnomAD v4: X-46853726-G-A
• MyVariant Identifiers: chrX:g.46713161G>A (hg19) ; chrX:g.46853726G>A (hg38)
• PubMed: PMID:9697692 ; PMID:10937588

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46853726G>A , CM000685.2:g.46853726G>A	GRCh38
NC_000023.10:g.46713161G>A , CM000685.1:g.46713161G>A	GRCh37
NC_000023.9:g.46598105G>A	NCBI36
NG_009107.1:g.21815G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.353G>A MANE Select	ENSP00000218340.3:p.Arg118His
ENST00000218340.3:c.353G>A	ENSP00000218340.3:p.Arg118His
NM_006915.2:c.353G>A	NP_008846.2:p.Arg118His
NM_006915.3:c.353G>A MANE Select	NP_008846.2:p.Arg118His