Canonical Allele Identifier: CA255297
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10544
ClinVar RCV Id: RCV000011290 RCV000787699 RCV001851789
dbSNP Id: rs137852284
gnomAD v2: X-46696549-TCTC-T
MyVariant Identifiers: chrX:g.46696551_46696553del (hg19) chrX:g.46696550_46696552del (hg19) chrX:g.46837116_46837118del (hg38) chrX:g.46837115_46837117del (hg38)
PubMed: PMID:9697692 PMID:10942419
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46837116_46837118del , CM000685.2:g.46837116_46837118del GRCh38
NC_000023.10:g.46696551_46696553del , CM000685.1:g.46696551_46696553del GRCh37
NC_000023.9:g.46581495_46581497del NCBI36
NG_009107.1:g.5205_5207del

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.16_18del MANE Select ENSP00000218340.3:p.Ser6del
ENST00000218340.3:c.16_18del ENSP00000218340.3:p.Ser6del
NM_006915.2:c.16_18del NP_008846.2:p.Ser6del
NM_006915.3:c.16_18del MANE Select NP_008846.2:p.Ser6del
Search 100 bp 5'
Search 100 bp 3'