Canonical Allele Identifier: CA5152957
Gene: GABBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1011517
ClinVar RCV Id: RCV001309326
dbSNP Id: rs533637833
ExAC: 9:101304293 G / T
gnomAD v2: 9-101304293-G-T
gnomAD v3: 9-98542011-G-T
gnomAD v4: 9-98542011-G-T
MyVariant Identifiers: chr9:g.101304293G>T (hg19) chr9:g.98542011G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542011G>T , CM000671.2:g.98542011G>T GRCh38
NC_000009.11:g.101304293G>T , CM000671.1:g.101304293G>T GRCh37
NC_000009.10:g.100344114G>T NCBI36
NG_016426.1:g.172187C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.492C>A MANE Select ENSP00000259455.2:p.Ala164=
ENST00000637410.1:n.270C>A
ENST00000637717.1:c.108C>A ENSP00000490789.1:p.Ala36=
ENST00000259455.3:c.492C>A ENSP00000259455.2:p.Ala164=
ENST00000477471.1:n.279C>A
ENST00000634227.1:n.266C>A
NM_005458.7:c.492C>A NP_005449.5:p.Ala164=
XM_017015331.2:c.198C>A XP_016870820.1:p.Ala66=
NM_005458.8:c.492C>A MANE Select NP_005449.5:p.Ala164=
Search 100 bp 5'
Search 100 bp 3'