Canonical Allele Identifier: CA3498330
Gene: ADRB2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.148826785C>T
GRCh37 chr5:g.148206348C>T
gnomAD v2:
5:148206348 C / T
gnomAD v3:
5:148826785 C / T
gnomAD v4:
chr5-148826785-C-T
Joint Max Group AF 0.89425572 (EAS)
Genomes Max Group AF 0.88206558 (EAS)
Exomes Max Group AF 0.89351905 (EAS)
ClinVar RCV:
RCV001667499
RCV002221462
ClinVar Variation:
1262380
dbSNP:
1042711
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148826785C>T , CM000667.2:g.148826785C>T GRCh38
NC_000005.9:g.148206348C>T , CM000667.1:g.148206348C>T GRCh37
NC_000005.8:g.148186541C>T NCBI36
NG_016421.1:g.5193C>T
NG_016421.2:g.5193C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305988.6:c.-47C>T MANE Select ENSP00000305372.4:n.-47C>T
ENST00000305988.5:c.-47C>T ENSP00000305372.4:n.-47C>T
NM_000024.5:c.-47C>T NP_000015.1:n.-47C>T
NM_000024.6:c.-47C>T MANE Select NP_000015.2:n.-47C>T
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