Canonical Allele Identifier: CA374351065

Gene: GABBR2

Linked Data

• ClinVar Variation Id: 1658915
• ClinVar RCV Id: RCV002174434
• dbSNP Id: rs1160950834
• gnomAD v2: 9-101304259-C-T
• gnomAD v4: 9-98541977-C-T
• COSMIC: COSM311338
• MyVariant Identifiers: chr9:g.101304259C>T (hg19) ; chr9:g.98541977C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541977C>T , CM000671.2:g.98541977C>T	GRCh38
NC_000009.11:g.101304259C>T , CM000671.1:g.101304259C>T	GRCh37
NC_000009.10:g.100344080C>T	NCBI36
NG_016426.1:g.172221G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.526G>A MANE Select	ENSP00000259455.2:p.Val176Ile
ENST00000637410.1:n.304G>A
ENST00000637717.1:c.142G>A	ENSP00000490789.1:p.Val48Ile
ENST00000259455.3:c.526G>A	ENSP00000259455.2:p.Val176Ile
ENST00000477471.1:n.313G>A
ENST00000634227.1:n.300G>A
NM_005458.7:c.526G>A	NP_005449.5:p.Val176Ile
XM_017015331.2:c.232G>A	XP_016870820.1:p.Val78Ile
NM_005458.8:c.526G>A MANE Select	NP_005449.5:p.Val176Ile