Canonical Allele Identifier: CA374350216
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98578051T>A , CM000671.2:g.98578051T>A GRCh38
NC_000009.11:g.101340333T>A , CM000671.1:g.101340333T>A GRCh37
NC_000009.10:g.100380154T>A NCBI36
NG_016426.1:g.136147A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.343A>T MANE Select ENSP00000259455.2:p.Lys115Ter
ENST00000637410.1:n.121A>T
ENST00000637717.1:c.-42A>T ENSP00000490789.1:n.-42A>T
ENST00000259455.3:c.343A>T ENSP00000259455.2:p.Lys115Ter
ENST00000634227.1:n.117A>T
NM_005458.7:c.343A>T NP_005449.5:p.Lys115Ter
NM_005458.8:c.343A>T MANE Select NP_005449.5:p.Lys115Ter