Canonical Allele Identifier: CA197074104
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs897712705
gnomAD v3: 9-98515210-C-T
gnomAD v4: 9-98515210-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98515210C>T , CM000671.2:g.98515210C>T GRCh38
NC_000009.11:g.101277492C>T , CM000671.1:g.101277492C>T GRCh37
NC_000009.10:g.100317313C>T NCBI36
NG_016426.1:g.198988G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.631-18696G>A MANE Select ENSP00000259455.2:n.631-18696G>A
ENST00000637410.1:n.409-18696G>A
ENST00000259455.3:c.631-18696G>A ENSP00000259455.2:n.631-18696G>A
ENST00000477471.1:n.418-18696G>A
ENST00000634227.1:n.405-18696G>A
ENST00000634919.1:n.306+784G>A
NM_005458.7:c.631-18696G>A NP_005449.5:n.631-18696G>A
XM_005252316.3:c.-144-18696G>A XP_005252373.1:n.-144-18696G>A
XM_005252316.5:c.-144-18696G>A XP_005252373.1:n.-144-18696G>A
XM_017015331.2:c.337-18696G>A XP_016870820.1:n.337-18696G>A
NM_005458.8:c.631-18696G>A MANE Select NP_005449.5:n.631-18696G>A