Canonical Allele Identifier: CA466526960

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304191C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541909C>A , CM000671.2:g.98541909C>A	GRCh38
NC_000009.11:g.101304191C>A , CM000671.1:g.101304191C>A	GRCh37
NC_000009.10:g.100344012C>A	NCBI36
NG_016426.1:g.172289G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.594G>T MANE Select	ENSP00000259455.2:p.Val198=
ENST00000637410.1:n.372G>T
ENST00000637717.1:c.210G>T	ENSP00000490789.1:p.Val70=
ENST00000259455.3:c.594G>T	ENSP00000259455.2:p.Val198=
ENST00000477471.1:n.381G>T
ENST00000634227.1:n.368G>T
NM_005458.7:c.594G>T	NP_005449.5:p.Val198=
XM_017015331.2:c.300G>T	XP_016870820.1:p.Val100=
NM_005458.8:c.594G>T MANE Select	NP_005449.5:p.Val198=