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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA16621891
Gene: RP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425494
ClinVar RCV Id:
RCV000487802
dbSNP Id:
rs1064797368
MyVariant Identifiers:
chrX:g.46713200del (hg19)
chrX:g.46853765del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.46853765del , CM000685.2:g.46853765del
GRCh38
NC_000023.10:g.46713200del , CM000685.1:g.46713200del
GRCh37
NC_000023.9:g.46598144del
NCBI36
NG_009107.1:g.21854del
Transcript Alleles
HGVS
Amino-acid change
ENST00000218340.4:c.392del
MANE Select
ENSP00000218340.3:p.Cys131LeufsTer25
ENST00000218340.3:c.392del
ENSP00000218340.3:p.Cys131LeufsTer25
NM_006915.2:c.392del
NP_008846.2:p.Cys131LeufsTer25
NM_006915.3:c.392del
MANE Select
NP_008846.2:p.Cys131LeufsTer25
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