Canonical Allele Identifier: CA589545193
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1401504225
gnomAD v2: 9-101340159-A-C
gnomAD v3: 9-98577877-A-C
gnomAD v4: 9-98577877-A-C
MyVariant Identifiers: chr9:g.101340159A>C (hg19) chr9:g.98577877A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577877A>C , CM000671.2:g.98577877A>C GRCh38
NC_000009.11:g.101340159A>C , CM000671.1:g.101340159A>C GRCh37
NC_000009.10:g.100379980A>C NCBI36
NG_016426.1:g.136321T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.459+58T>G MANE Select ENSP00000259455.2:n.459+58T>G
ENST00000637410.1:n.237+58T>G
ENST00000637717.1:c.75+58T>G ENSP00000490789.1:n.75+58T>G
ENST00000259455.3:c.459+58T>G ENSP00000259455.2:n.459+58T>G
ENST00000634227.1:n.233+58T>G
NM_005458.7:c.459+58T>G NP_005449.5:n.459+58T>G
NM_005458.8:c.459+58T>G MANE Select NP_005449.5:n.459+58T>G
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