Canonical Allele Identifier: CA5152988

Gene: GABBR2

Linked Data

• dbSNP Id: rs376980288
• ExAC: 9:101340190 C / A
• gnomAD v2: 9-101340190-C-A
• gnomAD v4: 9-98577908-C-A
• MyVariant Identifiers: chr9:g.101340190C>A (hg19) ; chr9:g.98577908C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98577908C>A , CM000671.2:g.98577908C>A	GRCh38
NC_000009.11:g.101340190C>A , CM000671.1:g.101340190C>A	GRCh37
NC_000009.10:g.100380011C>A	NCBI36
NG_016426.1:g.136290G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.459+27G>T MANE Select	ENSP00000259455.2:n.459+27G>T
ENST00000637410.1:n.237+27G>T
ENST00000637717.1:c.75+27G>T	ENSP00000490789.1:n.75+27G>T
ENST00000259455.3:c.459+27G>T	ENSP00000259455.2:n.459+27G>T
ENST00000634227.1:n.233+27G>T
NM_005458.7:c.459+27G>T	NP_005449.5:n.459+27G>T
NM_005458.8:c.459+27G>T MANE Select	NP_005449.5:n.459+27G>T