Canonical Allele Identifier: CA895763577
Gene: ADRA2B HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.96115239_96115247del
gnomAD v3:
2:96115238 CTCCTCCTCT / C
gnomAD v4:
chr2-96115238-CTCCTCCTCT-C
Joint Max Group AF 0.39256189 (EAS)
Genomes Max Group AF 0.40858875 (EAS)
Exomes Max Group AF 0.3886205 (EAS)
ClinVar RCV:
RCV000945840
ClinVar Variation:
767169
dbSNP:
4066772
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96115250_96115258del , CM000664.2:g.96115250_96115258del GRCh38
NG_032950.1:g.5903_5911del

Transcript Alleles

HGVS Amino-acid Change
ENST00000620793.2:c.903_911del MANE Select ENSP00000480573.1:p.Glu302_Glu304del
ENST00000620793.1:c.903_911del ENSP00000480573.1:p.Glu302_Glu304del
NM_000682.6:c.903_911del NP_000673.2:p.Glu302_Glu304del
NM_000682.7:c.903_911del MANE Select NP_000673.2:p.Glu302_Glu304del
Search 100 bp 5'
Search 100 bp 3'