Canonical Allele Identifier: CA1127205098

Gene: GABBR2

Linked Data

• dbSNP Id: rs1827739297
• gnomAD v3: 9-98515482-TCAA-T
• gnomAD v4: 9-98515482-TCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98515484_98515486del , CM000671.2:g.98515484_98515486del	GRCh38
NC_000009.11:g.101277766_101277768del , CM000671.1:g.101277766_101277768del	GRCh37
NC_000009.10:g.100317587_100317589del	NCBI36
NG_016426.1:g.198713_198715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.631-18971_631-18969del MANE Select	ENSP00000259455.2:n.631-18971_631-18969del
ENST00000637410.1:n.409-18971_409-18969del
ENST00000259455.3:c.631-18971_631-18969del	ENSP00000259455.2:n.631-18971_631-18969del
ENST00000477471.1:n.418-18971_418-18969del
ENST00000634227.1:n.405-18971_405-18969del
ENST00000634919.1:n.306+509_306+511del
NM_005458.7:c.631-18971_631-18969del	NP_005449.5:n.631-18971_631-18969del
XM_005252316.3:c.-144-18971_-144-18969del	XP_005252373.1:n.-144-18971_-144-18969del
XM_005252316.5:c.-144-18971_-144-18969del	XP_005252373.1:n.-144-18971_-144-18969del
XM_017015331.2:c.337-18971_337-18969del	XP_016870820.1:n.337-18971_337-18969del
NM_005458.8:c.631-18971_631-18969del MANE Select	NP_005449.5:n.631-18971_631-18969del