Canonical Allele Identifier: CA027956
Gene: GABBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.98578034T>C
GRCh37 chr9:g.101340316T>C
gnomAD v2:
9:101340316 T / C
gnomAD v3:
9:98578034 T / C
gnomAD v4:
chr9-98578034-T-C
Joint Max Group AF 0.233085 (AFR)
Genomes Max Group AF 0.2296661 (AFR)
Exomes Max Group AF 0.23464856 (AFR)
ClinVar RCV:
RCV001517760
RCV001618284
ClinVar Variation:
132156
dbSNP:
3750344
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98578034T>C , CM000671.2:g.98578034T>C GRCh38
NC_000009.11:g.101340316T>C , CM000671.1:g.101340316T>C GRCh37
NC_000009.10:g.100380137T>C NCBI36
NG_016426.1:g.136164A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.360A>G MANE Select ENSP00000259455.2:p.Ala120=
ENST00000637410.1:n.138A>G
ENST00000637717.1:c.-25A>G ENSP00000490789.1:n.-25A>G
ENST00000259455.3:c.360A>G ENSP00000259455.2:p.Ala120=
ENST00000634227.1:n.134A>G
NM_005458.7:c.360A>G NP_005449.5:p.Ala120=
NM_005458.8:c.360A>G MANE Select NP_005449.5:p.Ala120=
Search 100 bp 5'
Search 100 bp 3'