Canonical Allele Identifier: CA413038915
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 865821
ClinVar RCV Id: RCV001073339 RCV001862802
dbSNP Id: rs1924896657
MyVariant Identifiers: chrX:g.46712971G>A (hg19) chrX:g.46853536G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853536G>A , CM000685.2:g.46853536G>A GRCh38
NC_000023.10:g.46712971G>A , CM000685.1:g.46712971G>A GRCh37
NC_000023.9:g.46597915G>A NCBI36
NG_009107.1:g.21625G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.163G>A MANE Select ENSP00000218340.3:p.Gly55Arg
ENST00000218340.3:c.163G>A ENSP00000218340.3:p.Gly55Arg
NM_006915.2:c.163G>A NP_008846.2:p.Gly55Arg
NM_006915.3:c.163G>A MANE Select NP_008846.2:p.Gly55Arg
Search 100 bp 5'
Search 100 bp 3'