Canonical Allele Identifier: CA869072106

Gene: GABBR2

Linked Data

• dbSNP Id: rs1190524989
• gnomAD v3: 9-98542394-C-G
• gnomAD v4: 9-98542394-C-G
• MyVariant Identifiers: chr9:g.101304676C>G (hg19) ; chr9:g.98542394C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542394C>G , CM000671.2:g.98542394C>G	GRCh38
NC_000009.11:g.101304676C>G , CM000671.1:g.101304676C>G	GRCh37
NC_000009.10:g.100344497C>G	NCBI36
NG_016426.1:g.171804G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.460-351G>C MANE Select	ENSP00000259455.2:n.460-351G>C
ENST00000637410.1:n.238-351G>C
ENST00000637717.1:c.76-351G>C	ENSP00000490789.1:n.76-351G>C
ENST00000638001.1:n.70-351G>C
ENST00000259455.3:c.460-351G>C	ENSP00000259455.2:n.460-351G>C
ENST00000477471.1:n.247-351G>C
ENST00000634227.1:n.234-351G>C
NM_005458.7:c.460-351G>C	NP_005449.5:n.460-351G>C
XM_017015331.2:c.166-351G>C	XP_016870820.1:n.166-351G>C
NM_005458.8:c.460-351G>C MANE Select	NP_005449.5:n.460-351G>C