Canonical Allele Identifier: CA1127215567

Gene: GABBR2

Linked Data

• dbSNP Id: rs1588220267
• gnomAD v3: 9-98542373-T-A
• gnomAD v4: 9-98542373-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542373T>A , CM000671.2:g.98542373T>A	GRCh38
NC_000009.11:g.101304655T>A , CM000671.1:g.101304655T>A	GRCh37
NC_000009.10:g.100344476T>A	NCBI36
NG_016426.1:g.171825A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.460-330A>T MANE Select	ENSP00000259455.2:n.460-330A>T
ENST00000637410.1:n.238-330A>T
ENST00000637717.1:c.76-330A>T	ENSP00000490789.1:n.76-330A>T
ENST00000638001.1:n.70-330A>T
ENST00000259455.3:c.460-330A>T	ENSP00000259455.2:n.460-330A>T
ENST00000477471.1:n.247-330A>T
ENST00000634227.1:n.234-330A>T
NM_005458.7:c.460-330A>T	NP_005449.5:n.460-330A>T
XM_017015331.2:c.166-330A>T	XP_016870820.1:n.166-330A>T
NM_005458.8:c.460-330A>T MANE Select	NP_005449.5:n.460-330A>T