Canonical Allele Identifier: CA1127178223

Gene: GABBR2

Linked Data

• dbSNP Id: rs1831211165
• gnomAD v3: 9-98341381-A-AAGTT
• gnomAD v4: 9-98341381-A-AAGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98341382_98341385dup , CM000671.2:g.98341382_98341385dup	GRCh38
NC_000009.11:g.101103664_101103667dup , CM000671.1:g.101103664_101103667dup	GRCh37
NC_000009.10:g.100143485_100143488dup	NCBI36
NG_016426.1:g.372813_372816dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.1893+21330_1893+21333dup MANE Select	ENSP00000259455.2:n.1893+21330_1893+21333dup
ENST00000637410.1:n.1671+21330_1671+21333dup
ENST00000259455.3:c.1893+21330_1893+21333dup	ENSP00000259455.2:n.1893+21330_1893+21333dup
ENST00000634457.1:c.231+21330_231+21333dup	ENSP00000489352.1:n.231+21330_231+21333dup
ENST00000635462.1:n.388+21330_388+21333dup
NM_005458.7:c.1893+21330_1893+21333dup	NP_005449.5:n.1893+21330_1893+21333dup
XM_005252316.3:c.1119+21330_1119+21333dup	XP_005252373.1:n.1119+21330_1119+21333dup
XM_005252316.5:c.1119+21330_1119+21333dup	XP_005252373.1:n.1119+21330_1119+21333dup
XM_017015331.2:c.1599+21330_1599+21333dup	XP_016870820.1:n.1599+21330_1599+21333dup
XM_017015332.2:c.1119+21330_1119+21333dup	XP_016870821.1:n.1119+21330_1119+21333dup
NM_005458.8:c.1893+21330_1893+21333dup MANE Select	NP_005449.5:n.1893+21330_1893+21333dup