Canonical Allele Identifier: CA027956

Gene: GABBR2

Linked Data

• ClinVar Variation Id: 132156
• ClinVar RCV Id: RCV001517760 ; RCV001618284
• dbSNP Id: rs3750344
• ExAC: 9:101340316 T / C
• gnomAD v2: 9-101340316-T-C
• gnomAD v3: 9-98578034-T-C
• gnomAD v4: 9-98578034-T-C
• COSMIC: COSM3982635
• MyVariant Identifiers: chr9:g.101340316T>C (hg19) ; chr9:g.98578034T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98578034T>C , CM000671.2:g.98578034T>C	GRCh38
NC_000009.11:g.101340316T>C , CM000671.1:g.101340316T>C	GRCh37
NC_000009.10:g.100380137T>C	NCBI36
NG_016426.1:g.136164A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.360A>G MANE Select	ENSP00000259455.2:p.Ala120=
ENST00000637410.1:n.138A>G
ENST00000637717.1:c.-25A>G	ENSP00000490789.1:n.-25A>G
ENST00000259455.3:c.360A>G	ENSP00000259455.2:p.Ala120=
ENST00000634227.1:n.134A>G
NM_005458.7:c.360A>G	NP_005449.5:p.Ala120=
NM_005458.8:c.360A>G MANE Select	NP_005449.5:p.Ala120=