Canonical Allele Identifier: CA028082
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.[98442880C=;98542066C=;98578034T>C] , CM000671.2:g.[98442880C=;98542066C=;98578034T>C] GRCh38
NC_000009.11:g.[101205162C=;101304348C=;101340316T>C] , CM000671.1:g.[101205162C=;101304348C=;101340316T>C] GRCh37
NC_000009.10:g.[100244983C=;100344169C=;100380137T>C] NCBI36
NG_016426.1:g.[136164A>G;172132G=;271318G=]

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.[360A>G;460-23G=;1236+11101G=] MANE Select ENSP00000259455.2:p.Ala120=
ENST00000637410.1:n.[138A>G;238-23G=;1014+11101G=]
ENST00000259455.3:c.[360A>G;460-23G=;1236+11101G=] ENSP00000259455.2:p.Ala120=
NM_005458.7:c.[360A>G;460-23G=;1236+11101G=] NP_005449.5:p.Ala120=
NM_005458.8:c.[360A>G;460-23G=;1236+11101G=] MANE Select NP_005449.5:p.Ala120=