Canonical Allele Identifier: CA1127215502

Gene: GABBR2

Linked Data

• dbSNP Id: rs1828318762
• gnomAD v3: 9-98542239-GGAA-G
• gnomAD v4: 9-98542239-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542244_98542246del , CM000671.2:g.98542244_98542246del	GRCh38
NC_000009.11:g.101304526_101304528del , CM000671.1:g.101304526_101304528del	GRCh37
NC_000009.10:g.100344347_100344349del	NCBI36
NG_016426.1:g.171956_171958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.460-199_460-197del MANE Select	ENSP00000259455.2:n.460-199_460-197del
ENST00000637410.1:n.238-199_238-197del
ENST00000637717.1:c.76-199_76-197del	ENSP00000490789.1:n.76-199_76-197del
ENST00000638001.1:n.70-199_70-197del
ENST00000259455.3:c.460-199_460-197del	ENSP00000259455.2:n.460-199_460-197del
ENST00000477471.1:n.247-199_247-197del
ENST00000634227.1:n.234-199_234-197del
NM_005458.7:c.460-199_460-197del	NP_005449.5:n.460-199_460-197del
XM_017015331.2:c.166-199_166-197del	XP_016870820.1:n.166-199_166-197del
NM_005458.8:c.460-199_460-197del MANE Select	NP_005449.5:n.460-199_460-197del