Canonical Allele Identifier: CA5152972

Gene: GABBR2

Linked Data

• dbSNP Id: rs369250603
• ExAC: 9:101304349 G / A
• gnomAD v2: 9-101304349-G-A
• gnomAD v3: 9-98542067-G-A
• gnomAD v4: 9-98542067-G-A
• MyVariant Identifiers: chr9:g.101304349G>A (hg19) ; chr9:g.98542067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542067G>A , CM000671.2:g.98542067G>A	GRCh38
NC_000009.11:g.101304349G>A , CM000671.1:g.101304349G>A	GRCh37
NC_000009.10:g.100344170G>A	NCBI36
NG_016426.1:g.172131C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.460-24C>T MANE Select	ENSP00000259455.2:n.460-24C>T
ENST00000637410.1:n.238-24C>T
ENST00000637717.1:c.76-24C>T	ENSP00000490789.1:n.76-24C>T
ENST00000638001.1:n.70-24C>T
ENST00000259455.3:c.460-24C>T	ENSP00000259455.2:n.460-24C>T
ENST00000477471.1:n.247-24C>T
ENST00000634227.1:n.234-24C>T
NM_005458.7:c.460-24C>T	NP_005449.5:n.460-24C>T
XM_017015331.2:c.166-24C>T	XP_016870820.1:n.166-24C>T
NM_005458.8:c.460-24C>T MANE Select	NP_005449.5:n.460-24C>T