Canonical Allele Identifier: CA374350202
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98578045A>C , CM000671.2:g.98578045A>C GRCh38
NC_000009.11:g.101340327A>C , CM000671.1:g.101340327A>C GRCh37
NC_000009.10:g.100380148A>C NCBI36
NG_016426.1:g.136153T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.349T>G MANE Select ENSP00000259455.2:p.Phe117Val
ENST00000637410.1:n.127T>G
ENST00000637717.1:c.-36T>G ENSP00000490789.1:n.-36T>G
ENST00000259455.3:c.349T>G ENSP00000259455.2:p.Phe117Val
ENST00000634227.1:n.123T>G
NM_005458.7:c.349T>G NP_005449.5:p.Phe117Val
NM_005458.8:c.349T>G MANE Select NP_005449.5:p.Phe117Val