Canonical Allele Identifier: CA589545192
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1343049928
gnomAD v2: 9-101340143-A-G
gnomAD v3: 9-98577861-A-G
gnomAD v4: 9-98577861-A-G
MyVariant Identifiers: chr9:g.101340143A>G (hg19) chr9:g.98577861A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577861A>G , CM000671.2:g.98577861A>G GRCh38
NC_000009.11:g.101340143A>G , CM000671.1:g.101340143A>G GRCh37
NC_000009.10:g.100379964A>G NCBI36
NG_016426.1:g.136337T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.459+74T>C MANE Select ENSP00000259455.2:n.459+74T>C
ENST00000637410.1:n.237+74T>C
ENST00000637717.1:c.75+74T>C ENSP00000490789.1:n.75+74T>C
ENST00000259455.3:c.459+74T>C ENSP00000259455.2:n.459+74T>C
ENST00000634227.1:n.233+74T>C
NM_005458.7:c.459+74T>C NP_005449.5:n.459+74T>C
NM_005458.8:c.459+74T>C MANE Select NP_005449.5:n.459+74T>C
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