Canonical Allele Identifier: CA374199608

Gene: GABBR2

Linked Data

• ClinVar Variation Id: 496592
• ClinVar RCV Id: RCV000590832 ; RCV001729645
• dbSNP Id: rs1554689313
• MyVariant Identifiers: chr9:g.101068513C>T (hg19) ; chr9:g.98306231C>T (hg38)
• PubMed: PMID:29369404

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98306231C>T , CM000671.2:g.98306231C>T	GRCh38
NC_000009.11:g.101068513C>T , CM000671.1:g.101068513C>T	GRCh37
NC_000009.10:g.100108334C>T	NCBI36
NG_016426.1:g.407967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.2119G>A MANE Select	ENSP00000259455.2:p.Ala707Thr
ENST00000637410.1:n.1897G>A
ENST00000259455.3:c.2119G>A	ENSP00000259455.2:p.Ala707Thr
ENST00000634354.1:n.341G>A
ENST00000634457.1:c.346G>A	ENSP00000489352.1:p.Ala116Thr
ENST00000635462.1:n.614G>A
NM_005458.7:c.2119G>A	NP_005449.5:p.Ala707Thr
XM_005252316.3:c.1345G>A	XP_005252373.1:p.Ala449Thr
XM_005252316.5:c.1345G>A	XP_005252373.1:p.Ala449Thr
XM_017015331.2:c.1825G>A	XP_016870820.1:p.Ala609Thr
XM_017015332.2:c.1345G>A	XP_016870821.1:p.Ala449Thr
NM_005458.8:c.2119G>A MANE Select	NP_005449.5:p.Ala707Thr