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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:
CA361893837
Gene: ADRB2
HGNC
NCBI
Linked Data
COSMIC:
COSM5673220
MyVariant Identifiers:
chr5:g.148206479G>T (hg19)
chr5:g.148826916G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826916G>T , CM000667.2:g.148826916G>T
GRCh38
NC_000005.9:g.148206479G>T , CM000667.1:g.148206479G>T
GRCh37
NC_000005.8:g.148186672G>T
NCBI36
NG_016421.1:g.5324G>T
NG_016421.2:g.5324G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.85G>T
MANE Select
ENSP00000305372.4:p.Asp29Tyr
ENST00000305988.5:c.85G>T
ENSP00000305372.4:p.Asp29Tyr
NM_000024.5:c.85G>T
NP_000015.1:p.Asp29Tyr
NM_000024.6:c.85G>T
MANE Select
NP_000015.2:p.Asp29Tyr
Search 100 bp 5'
Search 100 bp 3'