Canonical Allele Identifier: CA5153011
Gene: GABBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 852459
ClinVar RCV Id: RCV001057070 RCV003883542
dbSNP Id: rs766579887
ExAC: 9:101340337 C / A
gnomAD v2: 9-101340337-C-A
gnomAD v3: 9-98578055-C-A
gnomAD v4: 9-98578055-C-A
MyVariant Identifiers: chr9:g.101340337C>A (hg19) chr9:g.98578055C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98578055C>A , CM000671.2:g.98578055C>A GRCh38
NC_000009.11:g.101340337C>A , CM000671.1:g.101340337C>A GRCh37
NC_000009.10:g.100380158C>A NCBI36
NG_016426.1:g.136143G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.339G>T MANE Select ENSP00000259455.2:p.Gly113=
ENST00000637410.1:n.117G>T
ENST00000637717.1:c.-46G>T ENSP00000490789.1:n.-46G>T
ENST00000259455.3:c.339G>T ENSP00000259455.2:p.Gly113=
ENST00000634227.1:n.113G>T
NM_005458.7:c.339G>T NP_005449.5:p.Gly113=
NM_005458.8:c.339G>T MANE Select NP_005449.5:p.Gly113=
Search 100 bp 5'
Search 100 bp 3'