Canonical Allele Identifier: CA12994546
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs3780422

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98380522C>T , CM000671.2:g.98380522C>T GRCh38
NC_000009.11:g.101142804C>T , CM000671.1:g.101142804C>T GRCh37
NC_000009.10:g.100182625C>T NCBI36
NG_016426.1:g.333676G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.1662+5118G>A MANE Select ENSP00000259455.2:p.=
ENST00000259455.3:c.1662+5118G>A ENSP00000259455.2:p.=
NM_005458.7:c.1662+5118G>A NP_005449.5:p.=
XM_005252316.3:c.888+5118G>A XP_005252373.1:p.=
XM_005252316.5:c.888+5118G>A XP_005252373.1:p.=
XM_017015331.2:c.1368+5118G>A XP_016870820.1:p.=
XM_017015332.2:c.888+5118G>A XP_016870821.1:p.=
NM_005458.8:c.1662+5118G>A MANE Select NP_005449.5:p.=