Canonical Allele Identifier: CA1127215242

Gene: GABBR2

Linked Data

• dbSNP Id: rs1828304522
• gnomAD v3: 9-98541541-G-C
• gnomAD v4: 9-98541541-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541541G>C , CM000671.2:g.98541541G>C	GRCh38
NC_000009.11:g.101303823G>C , CM000671.1:g.101303823G>C	GRCh37
NC_000009.10:g.100343644G>C	NCBI36
NG_016426.1:g.172657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.630+332C>G MANE Select	ENSP00000259455.2:n.630+332C>G
ENST00000637410.1:n.408+332C>G
ENST00000259455.3:c.630+332C>G	ENSP00000259455.2:n.630+332C>G
ENST00000477471.1:n.417+332C>G
ENST00000634227.1:n.404+332C>G
NM_005458.7:c.630+332C>G	NP_005449.5:n.630+332C>G
XM_017015331.2:c.336+332C>G	XP_016870820.1:n.336+332C>G
NM_005458.8:c.630+332C>G MANE Select	NP_005449.5:n.630+332C>G