Canonical Allele Identifier: CA197080733
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs546690304
gnomAD v3: 9-98577869-T-C
gnomAD v4: 9-98577869-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577869T>C , CM000671.2:g.98577869T>C GRCh38
NC_000009.11:g.101340151T>C , CM000671.1:g.101340151T>C GRCh37
NC_000009.10:g.100379972T>C NCBI36
NG_016426.1:g.136329A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.459+66A>G MANE Select ENSP00000259455.2:n.459+66A>G
ENST00000637410.1:n.237+66A>G
ENST00000637717.1:c.75+66A>G ENSP00000490789.1:n.75+66A>G
ENST00000259455.3:c.459+66A>G ENSP00000259455.2:n.459+66A>G
ENST00000634227.1:n.233+66A>G
NM_005458.7:c.459+66A>G NP_005449.5:n.459+66A>G
NM_005458.8:c.459+66A>G MANE Select NP_005449.5:n.459+66A>G