Canonical Allele Identifier: CA589347229
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1481410413

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98380428del , CM000671.2:g.98380428del GRCh38
NC_000009.11:g.101142710del , CM000671.1:g.101142710del GRCh37
NC_000009.10:g.100182531del NCBI36
NG_016426.1:g.333774del

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.1662+5216del MANE Select ENSP00000259455.2:n.1662+5216del
ENST00000637410.1:n.1440+5216del
ENST00000259455.3:c.1662+5216del ENSP00000259455.2:n.1662+5216del
ENST00000634314.1:n.167+5216del
NM_005458.7:c.1662+5216del NP_005449.5:n.1662+5216del
XM_005252316.3:c.888+5216del XP_005252373.1:n.888+5216del
XM_005252316.5:c.888+5216del XP_005252373.1:n.888+5216del
XM_017015331.2:c.1368+5216del XP_016870820.1:n.1368+5216del
XM_017015332.2:c.888+5216del XP_016870821.1:n.888+5216del
NM_005458.8:c.1662+5216del MANE Select NP_005449.5:n.1662+5216del