Canonical Allele Identifier: CA197066257

Gene: GABBR2

Linked Data

• dbSNP Id: rs1012240101
• gnomAD v3: 9-98442771-CCTT-C
• gnomAD v4: 9-98442771-CCTT-C
• MyVariant Identifiers: chr9:g.101205054_101205056del (hg19) ; chr9:g.98442772_98442774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98442774_98442776del , CM000671.2:g.98442774_98442776del	GRCh38
NC_000009.11:g.101205056_101205058del , CM000671.1:g.101205056_101205058del	GRCh37
NC_000009.10:g.100244877_100244879del	NCBI36
NG_016426.1:g.271424_271426del

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.1236+11207_1236+11209del MANE Select	ENSP00000259455.2:n.1236+11207_1236+11209del
ENST00000637410.1:n.1014+11207_1014+11209del
ENST00000259455.3:c.1236+11207_1236+11209del	ENSP00000259455.2:n.1236+11207_1236+11209del
NM_005458.7:c.1236+11207_1236+11209del	NP_005449.5:n.1236+11207_1236+11209del
XM_005252316.3:c.462+11207_462+11209del	XP_005252373.1:n.462+11207_462+11209del
XM_005252316.5:c.462+11207_462+11209del	XP_005252373.1:n.462+11207_462+11209del
XM_017015331.2:c.942+11207_942+11209del	XP_016870820.1:n.942+11207_942+11209del
XM_017015332.2:c.462+11207_462+11209del	XP_016870821.1:n.462+11207_462+11209del
NM_005458.8:c.1236+11207_1236+11209del MANE Select	NP_005449.5:n.1236+11207_1236+11209del