Canonical Allele Identifier: CA5152985
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs754225218
ExAC: 9:101340184 C / T
gnomAD v2: 9-101340184-C-T
gnomAD v4: 9-98577902-C-T
MyVariant Identifiers: chr9:g.101340184C>T (hg19) chr9:g.98577902C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577902C>T , CM000671.2:g.98577902C>T GRCh38
NC_000009.11:g.101340184C>T , CM000671.1:g.101340184C>T GRCh37
NC_000009.10:g.100380005C>T NCBI36
NG_016426.1:g.136296G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.459+33G>A MANE Select ENSP00000259455.2:n.459+33G>A
ENST00000637410.1:n.237+33G>A
ENST00000637717.1:c.75+33G>A ENSP00000490789.1:n.75+33G>A
ENST00000259455.3:c.459+33G>A ENSP00000259455.2:n.459+33G>A
ENST00000634227.1:n.233+33G>A
NM_005458.7:c.459+33G>A NP_005449.5:n.459+33G>A
NM_005458.8:c.459+33G>A MANE Select NP_005449.5:n.459+33G>A
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