Canonical Allele Identifier: CA374349989
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577949A>G , CM000671.2:g.98577949A>G GRCh38
NC_000009.11:g.101340231A>G , CM000671.1:g.101340231A>G GRCh37
NC_000009.10:g.100380052A>G NCBI36
NG_016426.1:g.136249T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.445T>C MANE Select ENSP00000259455.2:p.Trp149Arg
ENST00000637410.1:n.223T>C
ENST00000637717.1:c.61T>C ENSP00000490789.1:p.Trp21Arg
ENST00000259455.3:c.445T>C ENSP00000259455.2:p.Trp149Arg
ENST00000634227.1:n.219T>C
NM_005458.7:c.445T>C NP_005449.5:p.Trp149Arg
NM_005458.8:c.445T>C MANE Select NP_005449.5:p.Trp149Arg