Canonical Allele Identifier: CA197076878

Gene: GABBR2

Linked Data

• dbSNP Id: rs533852185
• gnomAD v3: 9-98541539-CT-C
• gnomAD v4: 9-98541539-CT-C
• MyVariant Identifiers: chr9:g.101303822del (hg19) ; chr9:g.98541540del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541540del , CM000671.2:g.98541540del	GRCh38
NC_000009.11:g.101303822del , CM000671.1:g.101303822del	GRCh37
NC_000009.10:g.100343643del	NCBI36
NG_016426.1:g.172658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.630+333del MANE Select	ENSP00000259455.2:n.630+333del
ENST00000637410.1:n.408+333del
ENST00000259455.3:c.630+333del	ENSP00000259455.2:n.630+333del
ENST00000477471.1:n.417+333del
ENST00000634227.1:n.404+333del
NM_005458.7:c.630+333del	NP_005449.5:n.630+333del
XM_017015331.2:c.336+333del	XP_016870820.1:n.336+333del
NM_005458.8:c.630+333del MANE Select	NP_005449.5:n.630+333del