Canonical Allele Identifier: CA374349998
Gene: GABBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1046699
ClinVar RCV Id: RCV001351292
dbSNP Id: rs1828944019
gnomAD v4: 9-98577954-T-C
MyVariant Identifiers: chr9:g.101340236T>C (hg19) chr9:g.98577954T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577954T>C , CM000671.2:g.98577954T>C GRCh38
NC_000009.11:g.101340236T>C , CM000671.1:g.101340236T>C GRCh37
NC_000009.10:g.100380057T>C NCBI36
NG_016426.1:g.136244A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.440A>G MANE Select ENSP00000259455.2:p.Gln147Arg
ENST00000637410.1:n.218A>G
ENST00000637717.1:c.56A>G ENSP00000490789.1:p.Gln19Arg
ENST00000259455.3:c.440A>G ENSP00000259455.2:p.Gln147Arg
ENST00000634227.1:n.214A>G
NM_005458.7:c.440A>G NP_005449.5:p.Gln147Arg
NM_005458.8:c.440A>G MANE Select NP_005449.5:p.Gln147Arg
Search 100 bp 5'
Search 100 bp 3'