Canonical Allele Identifier: CA374349983
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577947C>G , CM000671.2:g.98577947C>G GRCh38
NC_000009.11:g.101340229C>G , CM000671.1:g.101340229C>G GRCh37
NC_000009.10:g.100380050C>G NCBI36
NG_016426.1:g.136251G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.447G>C MANE Select ENSP00000259455.2:p.Trp149Cys
ENST00000637410.1:n.225G>C
ENST00000637717.1:c.63G>C ENSP00000490789.1:p.Trp21Cys
ENST00000259455.3:c.447G>C ENSP00000259455.2:p.Trp149Cys
ENST00000634227.1:n.221G>C
NM_005458.7:c.447G>C NP_005449.5:p.Trp149Cys
NM_005458.8:c.447G>C MANE Select NP_005449.5:p.Trp149Cys