Canonical Allele Identifier: CA374351146

Gene: GABBR2

Linked Data

• dbSNP Id: rs1449813941
• gnomAD v2: 9-101304292-C-T
• gnomAD v4: 9-98542010-C-T
• MyVariant Identifiers: chr9:g.101304292C>T (hg19) ; chr9:g.98542010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542010C>T , CM000671.2:g.98542010C>T	GRCh38
NC_000009.11:g.101304292C>T , CM000671.1:g.101304292C>T	GRCh37
NC_000009.10:g.100344113C>T	NCBI36
NG_016426.1:g.172188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.493G>A MANE Select	ENSP00000259455.2:p.Asp165Asn
ENST00000637410.1:n.271G>A
ENST00000637717.1:c.109G>A	ENSP00000490789.1:p.Asp37Asn
ENST00000259455.3:c.493G>A	ENSP00000259455.2:p.Asp165Asn
ENST00000477471.1:n.280G>A
ENST00000634227.1:n.267G>A
NM_005458.7:c.493G>A	NP_005449.5:p.Asp165Asn
XM_017015331.2:c.199G>A	XP_016870820.1:p.Asp67Asn
NM_005458.8:c.493G>A MANE Select	NP_005449.5:p.Asp165Asn