Canonical Allele Identifier: CA197076940

Gene: GABBR2

Linked Data

• dbSNP Id: rs572948766
• gnomAD v3: 9-98542308-C-T
• gnomAD v4: 9-98542308-C-T
• MyVariant Identifiers: chr9:g.101304590C>T (hg19) ; chr9:g.98542308C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542308C>T , CM000671.2:g.98542308C>T	GRCh38
NC_000009.11:g.101304590C>T , CM000671.1:g.101304590C>T	GRCh37
NC_000009.10:g.100344411C>T	NCBI36
NG_016426.1:g.171890G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.460-265G>A MANE Select	ENSP00000259455.2:n.460-265G>A
ENST00000637410.1:n.238-265G>A
ENST00000637717.1:c.76-265G>A	ENSP00000490789.1:n.76-265G>A
ENST00000638001.1:n.70-265G>A
ENST00000259455.3:c.460-265G>A	ENSP00000259455.2:n.460-265G>A
ENST00000477471.1:n.247-265G>A
ENST00000634227.1:n.234-265G>A
NM_005458.7:c.460-265G>A	NP_005449.5:n.460-265G>A
XM_017015331.2:c.166-265G>A	XP_016870820.1:n.166-265G>A
NM_005458.8:c.460-265G>A MANE Select	NP_005449.5:n.460-265G>A