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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:
CA563960698
Gene: ADRB2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1319716178
gnomAD v2:
5-148206391-CG-C
gnomAD v4:
5-148826828-CG-C
MyVariant Identifiers:
chr5:g.148206392del (hg19)
chr5:g.148826829del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826829del , CM000667.2:g.148826829del
GRCh38
NC_000005.9:g.148206392del , CM000667.1:g.148206392del
GRCh37
NC_000005.8:g.148186585del
NCBI36
NG_016421.1:g.5237del
NG_016421.2:g.5237del
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.-3del
MANE Select
ENSP00000305372.4:n.-3del
ENST00000305988.5:c.-3del
ENSP00000305372.4:n.-3del
NM_000024.5:c.-3del
NP_000015.1:n.-3del
NM_000024.6:c.-3del
MANE Select
NP_000015.2:n.-3del
Search 100 bp 5'
Search 100 bp 3'