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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:
CA2697667478
Gene: RGS2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2102107522
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.192812058_192812059del , CM000663.2:g.192812058_192812059del
GRCh38
NC_000001.10:g.192781188_192781189del , CM000663.1:g.192781188_192781189del
GRCh37
NC_000001.9:g.191047811_191047812del
NCBI36
NG_012800.1:g.8020_8021del
Transcript Alleles
HGVS
Amino-acid change
ENST00000235382.7:c.*462_*463del
MANE Select
ENSP00000235382.5:n.*462_*463del
ENST00000235382.6:c.*462_*463del
ENSP00000235382.5:n.*462_*463del
NM_002923.3:c.*462_*463del
NP_002914.1:n.*462_*463del
NM_002923.4:c.*462_*463del
MANE Select
NP_002914.1:n.*462_*463del
Search 100 bp 5'
Search 100 bp 3'