Canonical Allele Identifier: CA374350837

Gene: GABBR2

Linked Data

• gnomAD v4: 9-98541875-C-T
• COSMIC: COSM6182247
• MyVariant Identifiers: chr9:g.101304157C>T (hg19) ; chr9:g.98541875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541875C>T , CM000671.2:g.98541875C>T	GRCh38
NC_000009.11:g.101304157C>T , CM000671.1:g.101304157C>T	GRCh37
NC_000009.10:g.100343978C>T	NCBI36
NG_016426.1:g.172323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.628G>A MANE Select	ENSP00000259455.2:p.Glu210Lys
ENST00000637410.1:n.406G>A
ENST00000259455.3:c.628G>A	ENSP00000259455.2:p.Glu210Lys
ENST00000477471.1:n.415G>A
ENST00000634227.1:n.402G>A
NM_005458.7:c.628G>A	NP_005449.5:p.Glu210Lys
XM_017015331.2:c.334G>A	XP_016870820.1:p.Glu112Lys
NM_005458.8:c.628G>A MANE Select	NP_005449.5:p.Glu210Lys