Canonical Allele Identifier: CA645509226
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 437942
ClinVar RCV Id: RCV000505009 RCV001091009 RCV003324529 RCV003324530
dbSNP Id: rs1556313414
MyVariant Identifiers: chrX:g.46696549_46696551del (hg19) chrX:g.46837114_46837116del (hg38)
PubMed: PMID:18552978 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46837114_46837116del , CM000685.2:g.46837114_46837116del GRCh38
NC_000023.10:g.46696549_46696551del , CM000685.1:g.46696549_46696551del GRCh37
NC_000023.9:g.46581493_46581495del NCBI36
NG_009107.1:g.5203_5205del

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.14_16del MANE Select ENSP00000218340.3:p.Phe5del
ENST00000218340.3:c.14_16del ENSP00000218340.3:p.Phe5del
NM_006915.2:c.14_16del NP_008846.2:p.Phe5del
NM_006915.3:c.14_16del MANE Select NP_008846.2:p.Phe5del
Search 100 bp 5'
Search 100 bp 3'