Canonical Allele Identifier: CA374351083
Gene: GABBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101304267A>C (hg19) chr9:g.98541985A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541985A>C , CM000671.2:g.98541985A>C GRCh38
NC_000009.11:g.101304267A>C , CM000671.1:g.101304267A>C GRCh37
NC_000009.10:g.100344088A>C NCBI36
NG_016426.1:g.172213T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.518T>G MANE Select ENSP00000259455.2:p.Phe173Cys
ENST00000637410.1:n.296T>G
ENST00000637717.1:c.134T>G ENSP00000490789.1:p.Phe45Cys
ENST00000259455.3:c.518T>G ENSP00000259455.2:p.Phe173Cys
ENST00000477471.1:n.305T>G
ENST00000634227.1:n.292T>G
NM_005458.7:c.518T>G NP_005449.5:p.Phe173Cys
XM_017015331.2:c.224T>G XP_016870820.1:p.Phe75Cys
NM_005458.8:c.518T>G MANE Select NP_005449.5:p.Phe173Cys
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