Canonical Allele Identifier: CA374350860

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304167C>G (hg19) ; chr9:g.98541885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541885C>G , CM000671.2:g.98541885C>G	GRCh38
NC_000009.11:g.101304167C>G , CM000671.1:g.101304167C>G	GRCh37
NC_000009.10:g.100343988C>G	NCBI36
NG_016426.1:g.172313G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.618G>C MANE Select	ENSP00000259455.2:p.Gln206His
ENST00000637410.1:n.396G>C
ENST00000259455.3:c.618G>C	ENSP00000259455.2:p.Gln206His
ENST00000477471.1:n.405G>C
ENST00000634227.1:n.392G>C
NM_005458.7:c.618G>C	NP_005449.5:p.Gln206His
XM_017015331.2:c.324G>C	XP_016870820.1:p.Gln108His
NM_005458.8:c.618G>C MANE Select	NP_005449.5:p.Gln206His