Canonical Allele Identifier: CA5152993
Gene: GABBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1971538
ClinVar RCV Id: RCV002740817
dbSNP Id: rs780919502
ExAC: 9:101340213 T / C
gnomAD v2: 9-101340213-T-C
gnomAD v4: 9-98577931-T-C
MyVariant Identifiers: chr9:g.101340213T>C (hg19) chr9:g.98577931T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577931T>C , CM000671.2:g.98577931T>C GRCh38
NC_000009.11:g.101340213T>C , CM000671.1:g.101340213T>C GRCh37
NC_000009.10:g.100380034T>C NCBI36
NG_016426.1:g.136267A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.459+4A>G MANE Select ENSP00000259455.2:n.459+4A>G
ENST00000637410.1:n.237+4A>G
ENST00000637717.1:c.75+4A>G ENSP00000490789.1:n.75+4A>G
ENST00000259455.3:c.459+4A>G ENSP00000259455.2:n.459+4A>G
ENST00000634227.1:n.233+4A>G
NM_005458.7:c.459+4A>G NP_005449.5:n.459+4A>G
NM_005458.8:c.459+4A>G MANE Select NP_005449.5:n.459+4A>G
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