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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:
CA361893824
Gene: ADRB2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1423192778
gnomAD v2:
5-148206474-A-G
MyVariant Identifiers:
chr5:g.148206474A>G (hg19)
chr5:g.148826911A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826911A>G , CM000667.2:g.148826911A>G
GRCh38
NC_000005.9:g.148206474A>G , CM000667.1:g.148206474A>G
GRCh37
NC_000005.8:g.148186667A>G
NCBI36
NG_016421.1:g.5319A>G
NG_016421.2:g.5319A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.80A>G
MANE Select
ENSP00000305372.4:p.Glu27Gly
ENST00000305988.5:c.80A>G
ENSP00000305372.4:p.Glu27Gly
NM_000024.5:c.80A>G
NP_000015.1:p.Gln27Arg
NM_000024.6:c.80A>G
MANE Select
NP_000015.2:p.Glu27Gly
Search 100 bp 5'
Search 100 bp 3'