Canonical Allele Identifier: CA2579398223

Gene: GABBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542018del , CM000671.2:g.98542018del	GRCh38
NC_000009.11:g.101304300del , CM000671.1:g.101304300del	GRCh37
NC_000009.10:g.100344121del	NCBI36
NG_016426.1:g.172181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.486del MANE Select	ENSP00000259455.2:p.Leu163Ter
ENST00000637410.1:n.264del
ENST00000637717.1:c.102del	ENSP00000490789.1:p.Leu35Ter
ENST00000638001.1:n.96del
ENST00000259455.3:c.486del	ENSP00000259455.2:p.Leu163Ter
ENST00000477471.1:n.273del
ENST00000634227.1:n.260del
NM_005458.7:c.486del	NP_005449.5:p.Leu163Ter
XM_017015331.2:c.192del	XP_016870820.1:p.Leu65Ter
NM_005458.8:c.486del MANE Select	NP_005449.5:p.Leu163Ter