Canonical Allele Identifier: CA3498351
Gene: ADRB2 HGNC NCBI
COSMIC:
COSM4003392 (not active)
MyVariant.info:
GRCh38 chr5:g.148826877G>A
GRCh37 chr5:g.148206440G>A
Revel Score:
ENST00000305988 (MANE Select) 0.079
gnomAD v2:
5:148206440 G / A
gnomAD v3:
5:148826877 G / A
gnomAD v4:
chr5-148826877-G-A
Joint Max Group AF 0.52197147 (EAS)
Genomes Max Group AF 0.52744555 (EAS)
Exomes Max Group AF 0.51947102 (EAS)
ClinVar RCV:
RCV000211334
ClinVar Variation:
225937
dbSNP:
1042713
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148826877G>A , CM000667.2:g.148826877G>A GRCh38
NC_000005.9:g.148206440G>A , CM000667.1:g.148206440G>A GRCh37
NC_000005.8:g.148186633G>A NCBI36
NG_016421.2:g.5285G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305988.6:c.46G>A MANE Select ENSP00000305372.4:p.Gly16Arg
ENST00000305988.5:c.46G>A ENSP00000305372.4:p.Gly16Arg
NM_000024.6:c.46G>A MANE Select NP_000015.2:p.Gly16Arg
Search 100 bp 5'
Search 100 bp 3'