Canonical Allele Identifier: CA5152979

Gene: GABBR2

Linked Data

• dbSNP Id: rs777125763
• ExAC: 9:101340166 G / GCAAAAT
• gnomAD v2: 9-101340166-G-GCAAAAT
• gnomAD v4: 9-98577884-G-GCAAAAT
• MyVariant Identifiers: chr9:g.101340166_101340167insCAAAAT (hg19) ; chr9:g.98577884_98577885insCAAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98577884_98577885insCAAAAT , CM000671.2:g.98577884_98577885insCAAAAT	GRCh38
NC_000009.11:g.101340166_101340167insCAAAAT , CM000671.1:g.101340166_101340167insCAAAAT	GRCh37
NC_000009.10:g.100379987_100379988insCAAAAT	NCBI36
NG_016426.1:g.136313_136314insATTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.459+50_459+51insATTTTG MANE Select	ENSP00000259455.2:n.459+50_459+51insATTTTG
ENST00000637410.1:n.237+50_237+51insATTTTG
ENST00000637717.1:c.75+50_75+51insATTTTG	ENSP00000490789.1:n.75+50_75+51insATTTTG
ENST00000259455.3:c.459+50_459+51insATTTTG	ENSP00000259455.2:n.459+50_459+51insATTTTG
ENST00000634227.1:n.233+50_233+51insATTTTG
NM_005458.7:c.459+50_459+51insATTTTG	NP_005449.5:n.459+50_459+51insATTTTG
NM_005458.8:c.459+50_459+51insATTTTG MANE Select	NP_005449.5:n.459+50_459+51insATTTTG