Canonical Allele Identifier: CA3920124

Gene: GABRR2

Linked Data

• ClinVar Variation Id: 375645
• ClinVar RCV Id: RCV000417114
• dbSNP Id: rs756735401
• ExAC: 6:89974214 C / T
• gnomAD v2: 6-89974214-C-T
• gnomAD v4: 6-89264495-C-T
• MyVariant Identifiers: chr6:g.89974214C>T (hg19) ; chr6:g.89264495C>T (hg38)
• PubMed: PMID:27876815

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89264495C>T , CM000668.2:g.89264495C>T	GRCh38
NC_000006.11:g.89974214C>T , CM000668.1:g.89974214C>T	GRCh37
NC_000006.10:g.90030933C>T	NCBI36
NG_033977.1:g.55805G>A
NG_033977.2:g.55805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402938.4:c.1003G>A MANE Select	ENSP00000386029.4:p.Val335Met
ENST00000402938.3:c.1003G>A	ENSP00000386029.4:p.Val335Met
ENST00000602432.1:n.834G>A
NM_002043.3:c.1003G>A	NP_002034.3:p.Val335Met
XM_011535713.1:c.871G>A	XP_011534015.1:p.Val291Met
XM_011535714.1:c.706G>A	XP_011534016.1:p.Val236Met
XM_011535715.1:c.706G>A	XP_011534017.1:p.Val236Met
XM_011535716.1:c.706G>A	XP_011534018.1:p.Val236Met
XM_011535717.1:c.706G>A	XP_011534019.1:p.Val236Met
XM_011535718.1:c.706G>A	XP_011534020.1:p.Val236Met
NM_002043.4:c.1003G>A	NP_002034.3:p.Val335Met
XM_011535713.2:c.871G>A	XP_011534015.1:p.Val291Met
XM_011535714.3:c.706G>A	XP_011534016.1:p.Val236Met
XM_011535715.3:c.706G>A	XP_011534017.1:p.Val236Met
XM_011535716.3:c.706G>A	XP_011534018.1:p.Val236Met
XM_011535717.3:c.706G>A	XP_011534019.1:p.Val236Met
NM_002043.5:c.1003G>A MANE Select	NP_002034.3:p.Val335Met