Canonical Allele Identifier: CA589584940

Gene: GABBR2

Linked Data

• ClinVar Variation Id: 1643064
• ClinVar RCV Id: RCV002135841
• dbSNP Id: rs1564109426
• gnomAD v2: 9-101304341-GA-G
• gnomAD v4: 9-98542059-GA-G
• MyVariant Identifiers: chr9:g.101304342del (hg19) ; chr9:g.98542060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542060del , CM000671.2:g.98542060del	GRCh38
NC_000009.11:g.101304342del , CM000671.1:g.101304342del	GRCh37
NC_000009.10:g.100344163del	NCBI36
NG_016426.1:g.172138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.460-17del MANE Select	ENSP00000259455.2:n.460-17del
ENST00000637410.1:n.238-17del
ENST00000637717.1:c.76-17del	ENSP00000490789.1:n.76-17del
ENST00000638001.1:n.70-17del
ENST00000259455.3:c.460-17del	ENSP00000259455.2:n.460-17del
ENST00000477471.1:n.247-17del
ENST00000634227.1:n.234-17del
NM_005458.7:c.460-17del	NP_005449.5:n.460-17del
XM_017015331.2:c.166-17del	XP_016870820.1:n.166-17del
NM_005458.8:c.460-17del MANE Select	NP_005449.5:n.460-17del