Canonical Allele Identifier: CA589544562

Gene: GABBR2

Linked Data

• dbSNP Id: rs1219553618
• gnomAD v2: 9-101304601-C-G
• gnomAD v3: 9-98542319-C-G
• gnomAD v4: 9-98542319-C-G
• MyVariant Identifiers: chr9:g.101304601C>G (hg19) ; chr9:g.98542319C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542319C>G , CM000671.2:g.98542319C>G	GRCh38
NC_000009.11:g.101304601C>G , CM000671.1:g.101304601C>G	GRCh37
NC_000009.10:g.100344422C>G	NCBI36
NG_016426.1:g.171879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.460-276G>C MANE Select	ENSP00000259455.2:n.460-276G>C
ENST00000637410.1:n.238-276G>C
ENST00000637717.1:c.76-276G>C	ENSP00000490789.1:n.76-276G>C
ENST00000638001.1:n.70-276G>C
ENST00000259455.3:c.460-276G>C	ENSP00000259455.2:n.460-276G>C
ENST00000477471.1:n.247-276G>C
ENST00000634227.1:n.234-276G>C
NM_005458.7:c.460-276G>C	NP_005449.5:n.460-276G>C
XM_017015331.2:c.166-276G>C	XP_016870820.1:n.166-276G>C
NM_005458.8:c.460-276G>C MANE Select	NP_005449.5:n.460-276G>C