Canonical Allele Identifier: CA1127215579

Gene: GABBR2

Linked Data

• dbSNP Id: rs1828323102
• gnomAD v3: 9-98542392-TC-T
• gnomAD v4: 9-98542392-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542396del , CM000671.2:g.98542396del	GRCh38
NC_000009.11:g.101304678del , CM000671.1:g.101304678del	GRCh37
NC_000009.10:g.100344499del	NCBI36
NG_016426.1:g.171805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.460-350del MANE Select	ENSP00000259455.2:n.460-350del
ENST00000637410.1:n.238-350del
ENST00000637717.1:c.76-350del	ENSP00000490789.1:n.76-350del
ENST00000638001.1:n.70-350del
ENST00000259455.3:c.460-350del	ENSP00000259455.2:n.460-350del
ENST00000477471.1:n.247-350del
ENST00000634227.1:n.234-350del
NM_005458.7:c.460-350del	NP_005449.5:n.460-350del
XM_017015331.2:c.166-350del	XP_016870820.1:n.166-350del
NM_005458.8:c.460-350del MANE Select	NP_005449.5:n.460-350del