Canonical Allele Identifier: CA374349994
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98577952C>A , CM000671.2:g.98577952C>A GRCh38
NC_000009.11:g.101340234C>A , CM000671.1:g.101340234C>A GRCh37
NC_000009.10:g.100380055C>A NCBI36
NG_016426.1:g.136246G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.442G>T MANE Select ENSP00000259455.2:p.Gly148Cys
ENST00000637410.1:n.220G>T
ENST00000637717.1:c.58G>T ENSP00000490789.1:p.Gly20Cys
ENST00000259455.3:c.442G>T ENSP00000259455.2:p.Gly148Cys
ENST00000634227.1:n.216G>T
NM_005458.7:c.442G>T NP_005449.5:p.Gly148Cys
NM_005458.8:c.442G>T MANE Select NP_005449.5:p.Gly148Cys