Canonical Allele Identifier: CA374350010
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577960G>A , CM000671.2:g.98577960G>A GRCh38
NC_000009.11:g.101340242G>A , CM000671.1:g.101340242G>A GRCh37
NC_000009.10:g.100380063G>A NCBI36
NG_016426.1:g.136238C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.434C>T MANE Select ENSP00000259455.2:p.Ser145Phe
ENST00000637410.1:n.212C>T
ENST00000637717.1:c.50C>T ENSP00000490789.1:p.Ser17Phe
ENST00000259455.3:c.434C>T ENSP00000259455.2:p.Ser145Phe
ENST00000634227.1:n.208C>T
NM_005458.7:c.434C>T NP_005449.5:p.Ser145Phe
NM_005458.8:c.434C>T MANE Select NP_005449.5:p.Ser145Phe