Canonical Allele Identifier: CA374351200

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304321G>A (hg19) ; chr9:g.98542039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542039G>A , CM000671.2:g.98542039G>A	GRCh38
NC_000009.11:g.101304321G>A , CM000671.1:g.101304321G>A	GRCh37
NC_000009.10:g.100344142G>A	NCBI36
NG_016426.1:g.172159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.464C>T MANE Select	ENSP00000259455.2:p.Ser155Phe
ENST00000637410.1:n.242C>T
ENST00000637717.1:c.80C>T	ENSP00000490789.1:p.Ser27Phe
ENST00000638001.1:n.74C>T
ENST00000259455.3:c.464C>T	ENSP00000259455.2:p.Ser155Phe
ENST00000477471.1:n.251C>T
ENST00000634227.1:n.238C>T
NM_005458.7:c.464C>T	NP_005449.5:p.Ser155Phe
XM_017015331.2:c.170C>T	XP_016870820.1:p.Ser57Phe
NM_005458.8:c.464C>T MANE Select	NP_005449.5:p.Ser155Phe