Canonical Allele Identifier: CA2690937419

Gene: GABBR2

Linked Data

• gnomAD v4: 9-98541768-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541772del , CM000671.2:g.98541772del	GRCh38
NC_000009.11:g.101304054del , CM000671.1:g.101304054del	GRCh37
NC_000009.10:g.100343875del	NCBI36
NG_016426.1:g.172429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.630+104del MANE Select	ENSP00000259455.2:n.630+104del
ENST00000637410.1:n.408+104del
ENST00000259455.3:c.630+104del	ENSP00000259455.2:n.630+104del
ENST00000477471.1:n.417+104del
ENST00000634227.1:n.404+104del
NM_005458.7:c.630+104del	NP_005449.5:n.630+104del
XM_017015331.2:c.336+104del	XP_016870820.1:n.336+104del
NM_005458.8:c.630+104del MANE Select	NP_005449.5:n.630+104del