×
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:
CA2675882461
Gene: ADRB2
HGNC
NCBI
Linked Data
gnomAD v4:
5-148826703-CCCA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826708_148826710del , CM000667.2:g.148826708_148826710del
GRCh38
NC_000005.9:g.148206271_148206273del , CM000667.1:g.148206271_148206273del
GRCh37
NC_000005.8:g.148186464_148186466del
NCBI36
NG_016421.1:g.5116_5118del
NG_016421.2:g.5116_5118del
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.-124_-122del
MANE Select
ENSP00000305372.4:n.-124_-122del
ENST00000305988.5:c.-124_-122del
ENSP00000305372.4:n.-124_-122del
NM_000024.5:c.-124_-122del
NP_000015.1:n.-124_-122del
NM_000024.6:c.-124_-122del
MANE Select
NP_000015.2:n.-124_-122del
Search 100 bp 5'
Search 100 bp 3'