Canonical Allele Identifier: CA1127215465
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1828314443
gnomAD v3: 9-98542088-C-T
gnomAD v4: 9-98542088-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542088C>T , CM000671.2:g.98542088C>T GRCh38
NC_000009.11:g.101304370C>T , CM000671.1:g.101304370C>T GRCh37
NC_000009.10:g.100344191C>T NCBI36
NG_016426.1:g.172110G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.460-45G>A MANE Select ENSP00000259455.2:n.460-45G>A
ENST00000637410.1:n.238-45G>A
ENST00000637717.1:c.76-45G>A ENSP00000490789.1:n.76-45G>A
ENST00000638001.1:n.70-45G>A
ENST00000259455.3:c.460-45G>A ENSP00000259455.2:n.460-45G>A
ENST00000477471.1:n.247-45G>A
ENST00000634227.1:n.234-45G>A
NM_005458.7:c.460-45G>A NP_005449.5:n.460-45G>A
XM_017015331.2:c.166-45G>A XP_016870820.1:n.166-45G>A
NM_005458.8:c.460-45G>A MANE Select NP_005449.5:n.460-45G>A