Canonical Allele Identifier: CA1127204972

Gene: GABBR2

Linked Data

• dbSNP Id: rs1827734968
• gnomAD v3: 9-98515267-TGG-T
• gnomAD v4: 9-98515267-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98515270_98515271del , CM000671.2:g.98515270_98515271del	GRCh38
NC_000009.11:g.101277552_101277553del , CM000671.1:g.101277552_101277553del	GRCh37
NC_000009.10:g.100317373_100317374del	NCBI36
NG_016426.1:g.198929_198930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.631-18755_631-18754del MANE Select	ENSP00000259455.2:n.631-18755_631-18754del
ENST00000637410.1:n.409-18755_409-18754del
ENST00000259455.3:c.631-18755_631-18754del	ENSP00000259455.2:n.631-18755_631-18754del
ENST00000477471.1:n.418-18755_418-18754del
ENST00000634227.1:n.405-18755_405-18754del
ENST00000634919.1:n.306+725_306+726del
NM_005458.7:c.631-18755_631-18754del	NP_005449.5:n.631-18755_631-18754del
XM_005252316.3:c.-144-18755_-144-18754del	XP_005252373.1:n.-144-18755_-144-18754del
XM_005252316.5:c.-144-18755_-144-18754del	XP_005252373.1:n.-144-18755_-144-18754del
XM_017015331.2:c.337-18755_337-18754del	XP_016870820.1:n.337-18755_337-18754del
NM_005458.8:c.631-18755_631-18754del MANE Select	NP_005449.5:n.631-18755_631-18754del