Canonical Allele Identifier: CA374351186

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304315G>A (hg19) ; chr9:g.98542033G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542033G>A , CM000671.2:g.98542033G>A	GRCh38
NC_000009.11:g.101304315G>A , CM000671.1:g.101304315G>A	GRCh37
NC_000009.10:g.100344136G>A	NCBI36
NG_016426.1:g.172165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.470C>T MANE Select	ENSP00000259455.2:p.Ala157Val
ENST00000637410.1:n.248C>T
ENST00000637717.1:c.86C>T	ENSP00000490789.1:p.Ala29Val
ENST00000638001.1:n.80C>T
ENST00000259455.3:c.470C>T	ENSP00000259455.2:p.Ala157Val
ENST00000477471.1:n.257C>T
ENST00000634227.1:n.244C>T
NM_005458.7:c.470C>T	NP_005449.5:p.Ala157Val
XM_017015331.2:c.176C>T	XP_016870820.1:p.Ala59Val
NM_005458.8:c.470C>T MANE Select	NP_005449.5:p.Ala157Val