Canonical Allele Identifier: CA374350938

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304203C>A (hg19) ; chr9:g.98541921C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541921C>A , CM000671.2:g.98541921C>A	GRCh38
NC_000009.11:g.101304203C>A , CM000671.1:g.101304203C>A	GRCh37
NC_000009.10:g.100344024C>A	NCBI36
NG_016426.1:g.172277G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.582G>T MANE Select	ENSP00000259455.2:p.Gln194His
ENST00000637410.1:n.360G>T
ENST00000637717.1:c.198G>T	ENSP00000490789.1:p.Gln66His
ENST00000259455.3:c.582G>T	ENSP00000259455.2:p.Gln194His
ENST00000477471.1:n.369G>T
ENST00000634227.1:n.356G>T
NM_005458.7:c.582G>T	NP_005449.5:p.Gln194His
XM_017015331.2:c.288G>T	XP_016870820.1:p.Gln96His
NM_005458.8:c.582G>T MANE Select	NP_005449.5:p.Gln194His