Canonical Allele Identifier: CA466526957

Gene: GABBR2

Linked Data

• COSMIC: COSM4588292
• MyVariant Identifiers: chr9:g.101304188G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541906G>A , CM000671.2:g.98541906G>A	GRCh38
NC_000009.11:g.101304188G>A , CM000671.1:g.101304188G>A	GRCh37
NC_000009.10:g.100344009G>A	NCBI36
NG_016426.1:g.172292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.597C>T MANE Select	ENSP00000259455.2:p.Gly199=
ENST00000637410.1:n.375C>T
ENST00000637717.1:c.213C>T	ENSP00000490789.1:p.Gly71=
ENST00000259455.3:c.597C>T	ENSP00000259455.2:p.Gly199=
ENST00000477471.1:n.384C>T
ENST00000634227.1:n.371C>T
NM_005458.7:c.597C>T	NP_005449.5:p.Gly199=
XM_017015331.2:c.303C>T	XP_016870820.1:p.Gly101=
NM_005458.8:c.597C>T MANE Select	NP_005449.5:p.Gly199=