Canonical Allele Identifier: CA1775818
Gene: ADRA2B HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.96114968T>G
GRCh37 chr2:g.96780716T>G
gnomAD v2:
2:96780716 T / G
gnomAD v3:
2:96114968 T / G
gnomAD v4:
chr2-96114968-T-G
Joint Max Group AF 0.83273434 (MID)
Genomes Max Group AF 0.75892891 (SAS)
Exomes Max Group AF 0.83011026 (MID)
dbSNP:
2229169
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96114968T>G , CM000664.2:g.96114968T>G GRCh38
NC_000002.11:g.96780716T>G , CM000664.1:g.96780716T>G GRCh37
NC_000002.10:g.96144443T>G NCBI36
NG_032950.1:g.6182A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000620793.2:c.1182A>C MANE Select ENSP00000480573.1:p.Gly394=
ENST00000620793.1:c.1182A>C ENSP00000480573.1:p.Gly394=
NM_000682.6:c.1182A>C NP_000673.2:p.Gly394=
NM_000682.7:c.1182A>C MANE Select NP_000673.2:p.Gly394=
Search 100 bp 5'
Search 100 bp 3'