×
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:
CA3498408
Gene: ADRB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2545388
ClinVar RCV Id:
RCV003292404
dbSNP Id:
rs771189662
ExAC:
5:148206801 C / T
gnomAD v2:
5-148206801-C-T
gnomAD v4:
5-148827238-C-T
MyVariant Identifiers:
chr5:g.148206801C>T (hg19)
chr5:g.148827238C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148827238C>T , CM000667.2:g.148827238C>T
GRCh38
NC_000005.9:g.148206801C>T , CM000667.1:g.148206801C>T
GRCh37
NC_000005.8:g.148186994C>T
NCBI36
NG_016421.1:g.5646C>T
NG_016421.2:g.5646C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.407C>T
MANE Select
ENSP00000305372.4:p.Thr136Ile
ENST00000305988.5:c.407C>T
ENSP00000305372.4:p.Thr136Ile
NM_000024.5:c.407C>T
NP_000015.1:p.Thr136Ile
NM_000024.6:c.407C>T
MANE Select
NP_000015.2:p.Thr136Ile
Search 100 bp 5'
Search 100 bp 3'