Canonical Allele Identifier: CA589545197
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs56012010
gnomAD v4: 9-98577884-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577884G>A , CM000671.2:g.98577884G>A GRCh38
NC_000009.11:g.101340166G>A , CM000671.1:g.101340166G>A GRCh37
NC_000009.10:g.100379987G>A NCBI36
NG_016426.1:g.136314C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.459+51C>T MANE Select ENSP00000259455.2:n.459+51C>T
ENST00000637410.1:n.237+51C>T
ENST00000637717.1:c.75+51C>T ENSP00000490789.1:n.75+51C>T
ENST00000259455.3:c.459+51C>T ENSP00000259455.2:n.459+51C>T
ENST00000634227.1:n.233+51C>T
NM_005458.7:c.459+51C>T NP_005449.5:n.459+51C>T
NM_005458.8:c.459+51C>T MANE Select NP_005449.5:n.459+51C>T