Canonical Allele Identifier: CA197076909
Gene: GABBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1100737
ClinVar RCV Id: RCV001423471
dbSNP Id: rs79679873
gnomAD v3: 9-98541969-T-C
gnomAD v4: 9-98541969-T-C
MyVariant Identifiers: chr9:g.101304251T>C (hg19) chr9:g.98541969T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541969T>C , CM000671.2:g.98541969T>C GRCh38
NC_000009.11:g.101304251T>C , CM000671.1:g.101304251T>C GRCh37
NC_000009.10:g.100344072T>C NCBI36
NG_016426.1:g.172229A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.534A>G MANE Select ENSP00000259455.2:p.Ser178=
ENST00000637410.1:n.312A>G
ENST00000637717.1:c.150A>G ENSP00000490789.1:p.Ser50=
ENST00000259455.3:c.534A>G ENSP00000259455.2:p.Ser178=
ENST00000477471.1:n.321A>G
ENST00000634227.1:n.308A>G
NM_005458.7:c.534A>G NP_005449.5:p.Ser178=
XM_017015331.2:c.240A>G XP_016870820.1:p.Ser80=
NM_005458.8:c.534A>G MANE Select NP_005449.5:p.Ser178=
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Search 100 bp 3'