×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1590223439
Gene: ADRB2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1756548696
gnomAD v4:
5-148826706-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826708del , CM000667.2:g.148826708del
GRCh38
NC_000005.9:g.148206271del , CM000667.1:g.148206271del
GRCh37
NC_000005.8:g.148186464del
NCBI36
NG_016421.1:g.5116del
NG_016421.2:g.5116del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000305988.6:c.-124del
MANE Select
ENSP00000305372.4:n.-124del
ENST00000305988.5:c.-124del
ENSP00000305372.4:n.-124del
NM_000024.5:c.-124del
NP_000015.1:n.-124del
NM_000024.6:c.-124del
MANE Select
NP_000015.2:n.-124del
Search 100 bp 5'
Search 100 bp 3'