Canonical Allele Identifier: CA196790193
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs76257224
gnomAD v3: 9-98380478-C-G
gnomAD v4: 9-98380478-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98380478C>G , CM000671.2:g.98380478C>G GRCh38
NC_000009.11:g.101142760C>G , CM000671.1:g.101142760C>G GRCh37
NC_000009.10:g.100182581C>G NCBI36
NG_016426.1:g.333720G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.1662+5162G>C MANE Select ENSP00000259455.2:n.1662+5162G>C
ENST00000637410.1:n.1440+5162G>C
ENST00000259455.3:c.1662+5162G>C ENSP00000259455.2:n.1662+5162G>C
ENST00000634314.1:n.167+5162G>C
NM_005458.7:c.1662+5162G>C NP_005449.5:n.1662+5162G>C
XM_005252316.3:c.888+5162G>C XP_005252373.1:n.888+5162G>C
XM_005252316.5:c.888+5162G>C XP_005252373.1:n.888+5162G>C
XM_017015331.2:c.1368+5162G>C XP_016870820.1:n.1368+5162G>C
XM_017015332.2:c.888+5162G>C XP_016870821.1:n.888+5162G>C
NM_005458.8:c.1662+5162G>C MANE Select NP_005449.5:n.1662+5162G>C