Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA129772924

Gene: ADRB2 HGNC NCBI

Linked Data

dbSNP Id: rs764935177

gnomAD v4: 5-148826779-T-G

MyVariant Identifiers: chr5:g.148206342T>G (hg19) chr5:g.148826779T>G (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148826779T>G , CM000667.2:g.148826779T>G	GRCh38
NC_000005.9:g.148206342T>G , CM000667.1:g.148206342T>G	GRCh37
NC_000005.8:g.148186535T>G	NCBI36
NG_016421.1:g.5187T>G
NG_016421.2:g.5187T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000305988.6:c.-53T>G MANE Select	ENSP00000305372.4:n.-53T>G
ENST00000305988.5:c.-53T>G	ENSP00000305372.4:n.-53T>G
NM_000024.5:c.-53T>G	NP_000015.1:n.-53T>G
NM_000024.6:c.-53T>G MANE Select	NP_000015.2:n.-53T>G

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