Canonical Allele Identifier: CA1127195522

Gene: GABBR2

Linked Data

• dbSNP Id: rs1831953705
• gnomAD v3: 9-98380514-C-T
• gnomAD v4: 9-98380514-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98380514C>T , CM000671.2:g.98380514C>T	GRCh38
NC_000009.11:g.101142796C>T , CM000671.1:g.101142796C>T	GRCh37
NC_000009.10:g.100182617C>T	NCBI36
NG_016426.1:g.333684G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.1662+5126G>A MANE Select	ENSP00000259455.2:n.1662+5126G>A
ENST00000637410.1:n.1440+5126G>A
ENST00000259455.3:c.1662+5126G>A	ENSP00000259455.2:n.1662+5126G>A
ENST00000634314.1:n.167+5126G>A
NM_005458.7:c.1662+5126G>A	NP_005449.5:n.1662+5126G>A
XM_005252316.3:c.888+5126G>A	XP_005252373.1:n.888+5126G>A
XM_005252316.5:c.888+5126G>A	XP_005252373.1:n.888+5126G>A
XM_017015331.2:c.1368+5126G>A	XP_016870820.1:n.1368+5126G>A
XM_017015332.2:c.888+5126G>A	XP_016870821.1:n.888+5126G>A
NM_005458.8:c.1662+5126G>A MANE Select	NP_005449.5:n.1662+5126G>A