Canonical Allele Identifier: CA197076938

Gene: GABBR2

Linked Data

• dbSNP Id: rs1007049595
• gnomAD v2: 9-101304587-A-C
• gnomAD v3: 9-98542305-A-C
• gnomAD v4: 9-98542305-A-C
• MyVariant Identifiers: chr9:g.101304587A>C (hg19) ; chr9:g.98542305A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542305A>C , CM000671.2:g.98542305A>C	GRCh38
NC_000009.11:g.101304587A>C , CM000671.1:g.101304587A>C	GRCh37
NC_000009.10:g.100344408A>C	NCBI36
NG_016426.1:g.171893T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.460-262T>G MANE Select	ENSP00000259455.2:n.460-262T>G
ENST00000637410.1:n.238-262T>G
ENST00000637717.1:c.76-262T>G	ENSP00000490789.1:n.76-262T>G
ENST00000638001.1:n.70-262T>G
ENST00000259455.3:c.460-262T>G	ENSP00000259455.2:n.460-262T>G
ENST00000477471.1:n.247-262T>G
ENST00000634227.1:n.234-262T>G
NM_005458.7:c.460-262T>G	NP_005449.5:n.460-262T>G
XM_017015331.2:c.166-262T>G	XP_016870820.1:n.166-262T>G
NM_005458.8:c.460-262T>G MANE Select	NP_005449.5:n.460-262T>G