Canonical Allele Identifier: CA197076884

Gene: GABBR2

Linked Data

• ClinVar Variation Id: 1236860
• ClinVar RCV Id: RCV001639375
• dbSNP Id: rs146269318
• gnomAD v2: 9-101303849-C-CA
• gnomAD v3: 9-98541567-C-CA
• gnomAD v4: 9-98541567-C-CA
• MyVariant Identifiers: chr9:g.101303849_101303850insA (hg19) ; chr9:g.98541567_98541568insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541568dup , CM000671.2:g.98541568dup	GRCh38
NC_000009.11:g.101303850dup , CM000671.1:g.101303850dup	GRCh37
NC_000009.10:g.100343671dup	NCBI36
NG_016426.1:g.172630dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.630+305dup MANE Select	ENSP00000259455.2:n.630+305dup
ENST00000637410.1:n.408+305dup
ENST00000259455.3:c.630+305dup	ENSP00000259455.2:n.630+305dup
ENST00000477471.1:n.417+305dup
ENST00000634227.1:n.404+305dup
NM_005458.7:c.630+305dup	NP_005449.5:n.630+305dup
XM_017015331.2:c.336+305dup	XP_016870820.1:n.336+305dup
NM_005458.8:c.630+305dup MANE Select	NP_005449.5:n.630+305dup