Canonical Allele Identifier: CA197066272

Gene: GABBR2

Linked Data

• dbSNP Id: rs978667443
• gnomAD v3: 9-98442889-CCT-C
• gnomAD v4: 9-98442889-CCT-C
• MyVariant Identifiers: chr9:g.101205172_101205173del (hg19) ; chr9:g.98442890_98442891del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98442890_98442891del , CM000671.2:g.98442890_98442891del	GRCh38
NC_000009.11:g.101205172_101205173del , CM000671.1:g.101205172_101205173del	GRCh37
NC_000009.10:g.100244993_100244994del	NCBI36
NG_016426.1:g.271307_271308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.1236+11090_1236+11091del MANE Select	ENSP00000259455.2:n.1236+11090_1236+11091del
ENST00000637410.1:n.1014+11090_1014+11091del
ENST00000259455.3:c.1236+11090_1236+11091del	ENSP00000259455.2:n.1236+11090_1236+11091del
NM_005458.7:c.1236+11090_1236+11091del	NP_005449.5:n.1236+11090_1236+11091del
XM_005252316.3:c.462+11090_462+11091del	XP_005252373.1:n.462+11090_462+11091del
XM_005252316.5:c.462+11090_462+11091del	XP_005252373.1:n.462+11090_462+11091del
XM_017015331.2:c.942+11090_942+11091del	XP_016870820.1:n.942+11090_942+11091del
XM_017015332.2:c.462+11090_462+11091del	XP_016870821.1:n.462+11090_462+11091del
NM_005458.8:c.1236+11090_1236+11091del MANE Select	NP_005449.5:n.1236+11090_1236+11091del