Canonical Allele Identifier: CA589347232
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1287294406
gnomAD v3: 9-98380434-C-T
gnomAD v4: 9-98380434-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98380434C>T , CM000671.2:g.98380434C>T GRCh38
NC_000009.11:g.101142716C>T , CM000671.1:g.101142716C>T GRCh37
NC_000009.10:g.100182537C>T NCBI36
NG_016426.1:g.333764G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.1662+5206G>A MANE Select ENSP00000259455.2:n.1662+5206G>A
ENST00000637410.1:n.1440+5206G>A
ENST00000259455.3:c.1662+5206G>A ENSP00000259455.2:n.1662+5206G>A
ENST00000634314.1:n.167+5206G>A
NM_005458.7:c.1662+5206G>A NP_005449.5:n.1662+5206G>A
XM_005252316.3:c.888+5206G>A XP_005252373.1:n.888+5206G>A
XM_005252316.5:c.888+5206G>A XP_005252373.1:n.888+5206G>A
XM_017015331.2:c.1368+5206G>A XP_016870820.1:n.1368+5206G>A
XM_017015332.2:c.888+5206G>A XP_016870821.1:n.888+5206G>A
NM_005458.8:c.1662+5206G>A MANE Select NP_005449.5:n.1662+5206G>A