Canonical Allele Identifier: CA374351202

Gene: GABBR2

Linked Data

• COSMIC: COSM1103138
• MyVariant Identifiers: chr9:g.101304321G>T (hg19) ; chr9:g.98542039G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.464C>A MANE Select	ENSP00000259455.2:p.Ser155Tyr
ENST00000637410.1:n.242C>A
ENST00000637717.1:c.80C>A	ENSP00000490789.1:p.Ser27Tyr
ENST00000638001.1:n.74C>A
ENST00000259455.3:c.464C>A	ENSP00000259455.2:p.Ser155Tyr
ENST00000477471.1:n.251C>A
ENST00000634227.1:n.238C>A
NM_005458.7:c.464C>A	NP_005449.5:p.Ser155Tyr
XM_017015331.2:c.170C>A	XP_016870820.1:p.Ser57Tyr
NM_005458.8:c.464C>A MANE Select	NP_005449.5:p.Ser155Tyr