Canonical Allele Identifier: CA5152967
Gene: GABBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1093289
ClinVar RCV Id: RCV001413381
dbSNP Id: rs778633817
ExAC: 9:101304331 A / G
gnomAD v2: 9-101304331-A-G
gnomAD v4: 9-98542049-A-G
MyVariant Identifiers: chr9:g.101304331A>G (hg19) chr9:g.98542049A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542049A>G , CM000671.2:g.98542049A>G GRCh38
NC_000009.11:g.101304331A>G , CM000671.1:g.101304331A>G GRCh37
NC_000009.10:g.100344152A>G NCBI36
NG_016426.1:g.172149T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.460-6T>C MANE Select ENSP00000259455.2:n.460-6T>C
ENST00000637410.1:n.238-6T>C
ENST00000637717.1:c.76-6T>C ENSP00000490789.1:n.76-6T>C
ENST00000638001.1:n.70-6T>C
ENST00000259455.3:c.460-6T>C ENSP00000259455.2:n.460-6T>C
ENST00000477471.1:n.247-6T>C
ENST00000634227.1:n.234-6T>C
NM_005458.7:c.460-6T>C NP_005449.5:n.460-6T>C
XM_017015331.2:c.166-6T>C XP_016870820.1:n.166-6T>C
NM_005458.8:c.460-6T>C MANE Select NP_005449.5:n.460-6T>C
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