Allele Registry

Canonical Allele Identifier: CA10575720

Gene: ADRA2B HGNC NCBI

MyVariant.info:

GRCh38 chr2:g.96115464_96115475delinsCTGCCAAAC

GRCh37 chr2:g.96781203_96781214delinsCTGCCAAAC

ClinVar RCV:

RCV000172992

ClinVar Variation:

192366

dbSNP:

879255577

HGVS	Genome Assembly
NC_000002.12:g.96115464_96115475delinsCTGCCAAAC , CM000664.2:g.96115464_96115475delinsCTGCCAAAC	GRCh38
NC_000002.11:g.96781203_96781214delinsCTGCCAAAC , CM000664.1:g.96781203_96781214delinsCTGCCAAAC	GRCh37
NC_000002.10:g.96144930_96144941delinsCTGCCAAAC	NCBI36
NG_032950.1:g.5675_5686delinsGTTTGGCAG

HGVS	Amino-acid Change
ENST00000620793.2:c.675_686delinsGTTTGGCAG MANE Select	ENSP00000480573.1:p.His225_Leu229delinsGlnPheGlyArg
ENST00000620793.1:c.675_686delinsGTTTGGCAG	ENSP00000480573.1:p.His225_Leu229delinsGlnPheGlyArg
NM_000682.6:c.675_686delinsGTTTGGCAG	NP_000673.2:p.His225_Leu229delinsGlnPheGlyArg
NM_000682.7:c.675_686delinsGTTTGGCAG MANE Select	NP_000673.2:p.His225_Leu229delinsGlnPheGlyArg