Canonical Allele Identifier: CA196790322

Gene: GABBR2

Linked Data

• dbSNP Id: rs999563086
• gnomAD v3: 9-98380548-A-T
• gnomAD v4: 9-98380548-A-T
• MyVariant Identifiers: chr9:g.101142830A>T (hg19) ; chr9:g.98380548A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98380548A>T , CM000671.2:g.98380548A>T	GRCh38
NC_000009.11:g.101142830A>T , CM000671.1:g.101142830A>T	GRCh37
NC_000009.10:g.100182651A>T	NCBI36
NG_016426.1:g.333650T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.1662+5092T>A MANE Select	ENSP00000259455.2:n.1662+5092T>A
ENST00000637410.1:n.1440+5092T>A
ENST00000259455.3:c.1662+5092T>A	ENSP00000259455.2:n.1662+5092T>A
ENST00000634314.1:n.167+5092T>A
NM_005458.7:c.1662+5092T>A	NP_005449.5:n.1662+5092T>A
XM_005252316.3:c.888+5092T>A	XP_005252373.1:n.888+5092T>A
XM_005252316.5:c.888+5092T>A	XP_005252373.1:n.888+5092T>A
XM_017015331.2:c.1368+5092T>A	XP_016870820.1:n.1368+5092T>A
XM_017015332.2:c.888+5092T>A	XP_016870821.1:n.888+5092T>A
NM_005458.8:c.1662+5092T>A MANE Select	NP_005449.5:n.1662+5092T>A