Canonical Allele Identifier: CA197066261

Gene: GABBR2

Linked Data

• dbSNP Id: rs1003134996
• gnomAD v3: 9-98442820-C-A
• gnomAD v4: 9-98442820-C-A
• MyVariant Identifiers: chr9:g.101205102C>A (hg19) ; chr9:g.98442820C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98442820C>A , CM000671.2:g.98442820C>A	GRCh38
NC_000009.11:g.101205102C>A , CM000671.1:g.101205102C>A	GRCh37
NC_000009.10:g.100244923C>A	NCBI36
NG_016426.1:g.271378G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.1236+11161G>T MANE Select	ENSP00000259455.2:n.1236+11161G>T
ENST00000637410.1:n.1014+11161G>T
ENST00000259455.3:c.1236+11161G>T	ENSP00000259455.2:n.1236+11161G>T
NM_005458.7:c.1236+11161G>T	NP_005449.5:n.1236+11161G>T
XM_005252316.3:c.462+11161G>T	XP_005252373.1:n.462+11161G>T
XM_005252316.5:c.462+11161G>T	XP_005252373.1:n.462+11161G>T
XM_017015331.2:c.942+11161G>T	XP_016870820.1:n.942+11161G>T
XM_017015332.2:c.462+11161G>T	XP_016870821.1:n.462+11161G>T
NM_005458.8:c.1236+11161G>T MANE Select	NP_005449.5:n.1236+11161G>T