Canonical Allele Identifier: CA1127208055

Gene: GABBR2

Linked Data

• dbSNP Id: rs1828942313
• gnomAD v3: 9-98577845-G-A
• gnomAD v4: 9-98577845-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98577845G>A , CM000671.2:g.98577845G>A	GRCh38
NC_000009.11:g.101340127G>A , CM000671.1:g.101340127G>A	GRCh37
NC_000009.10:g.100379948G>A	NCBI36
NG_016426.1:g.136353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.459+90C>T MANE Select	ENSP00000259455.2:n.459+90C>T
ENST00000637410.1:n.237+90C>T
ENST00000637717.1:c.75+90C>T	ENSP00000490789.1:n.75+90C>T
ENST00000259455.3:c.459+90C>T	ENSP00000259455.2:n.459+90C>T
ENST00000634227.1:n.233+90C>T
NM_005458.7:c.459+90C>T	NP_005449.5:n.459+90C>T
NM_005458.8:c.459+90C>T MANE Select	NP_005449.5:n.459+90C>T