Canonical Allele Identifier: CA374351165

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304303G>T (hg19) ; chr9:g.98542021G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542021G>T , CM000671.2:g.98542021G>T	GRCh38
NC_000009.11:g.101304303G>T , CM000671.1:g.101304303G>T	GRCh37
NC_000009.10:g.100344124G>T	NCBI36
NG_016426.1:g.172177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.482C>A MANE Select	ENSP00000259455.2:p.Pro161His
ENST00000637410.1:n.260C>A
ENST00000637717.1:c.98C>A	ENSP00000490789.1:p.Pro33His
ENST00000638001.1:n.92C>A
ENST00000259455.3:c.482C>A	ENSP00000259455.2:p.Pro161His
ENST00000477471.1:n.269C>A
ENST00000634227.1:n.256C>A
NM_005458.7:c.482C>A	NP_005449.5:p.Pro161His
XM_017015331.2:c.188C>A	XP_016870820.1:p.Pro63His
NM_005458.8:c.482C>A MANE Select	NP_005449.5:p.Pro161His