Canonical Allele Identifier: CA2690937508

Gene: GABBR2

Linked Data

• gnomAD v4: 9-98542103-A-AGGAAAGATGCTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542103_98542104insGGAAAGATGCTGGG , CM000671.2:g.98542103_98542104insGGAAAGATGCTGGG	GRCh38
NC_000009.11:g.101304385_101304386insGGAAAGATGCTGGG , CM000671.1:g.101304385_101304386insGGAAAGATGCTGGG	GRCh37
NC_000009.10:g.100344206_100344207insGGAAAGATGCTGGG	NCBI36
NG_016426.1:g.172094_172095insCCCAGCATCTTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.460-61_460-60insCCCAGCATCTTTCC MANE Select	ENSP00000259455.2:n.460-61_460-60insCCCAGCATCTTTCC
ENST00000637410.1:n.238-61_238-60insCCCAGCATCTTTCC
ENST00000637717.1:c.76-61_76-60insCCCAGCATCTTTCC	ENSP00000490789.1:n.76-61_76-60insCCCAGCATCTTTCC
ENST00000638001.1:n.70-61_70-60insCCCAGCATCTTTCC
ENST00000259455.3:c.460-61_460-60insCCCAGCATCTTTCC	ENSP00000259455.2:n.460-61_460-60insCCCAGCATCTTTCC
ENST00000477471.1:n.247-61_247-60insCCCAGCATCTTTCC
ENST00000634227.1:n.234-61_234-60insCCCAGCATCTTTCC
NM_005458.7:c.460-61_460-60insCCCAGCATCTTTCC	NP_005449.5:n.460-61_460-60insCCCAGCATCTTTCC
XM_017015331.2:c.166-61_166-60insCCCAGCATCTTTCC	XP_016870820.1:n.166-61_166-60insCCCAGCATCTTTCC
NM_005458.8:c.460-61_460-60insCCCAGCATCTTTCC MANE Select	NP_005449.5:n.460-61_460-60insCCCAGCATCTTTCC