Canonical Allele Identifier: CA1127215491

Gene: GABBR2

Linked Data

• dbSNP Id: rs1828318386
• gnomAD v3: 9-98542216-G-A
• gnomAD v4: 9-98542216-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542216G>A , CM000671.2:g.98542216G>A	GRCh38
NC_000009.11:g.101304498G>A , CM000671.1:g.101304498G>A	GRCh37
NC_000009.10:g.100344319G>A	NCBI36
NG_016426.1:g.171982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.460-173C>T MANE Select	ENSP00000259455.2:n.460-173C>T
ENST00000637410.1:n.238-173C>T
ENST00000637717.1:c.76-173C>T	ENSP00000490789.1:n.76-173C>T
ENST00000638001.1:n.70-173C>T
ENST00000259455.3:c.460-173C>T	ENSP00000259455.2:n.460-173C>T
ENST00000477471.1:n.247-173C>T
ENST00000634227.1:n.234-173C>T
NM_005458.7:c.460-173C>T	NP_005449.5:n.460-173C>T
XM_017015331.2:c.166-173C>T	XP_016870820.1:n.166-173C>T
NM_005458.8:c.460-173C>T MANE Select	NP_005449.5:n.460-173C>T