Canonical Allele Identifier: CA3920050

Gene: GABRR2

Linked Data

• ClinVar Variation Id: 1286404
• ClinVar RCV Id: RCV001710186
• dbSNP Id: rs282129
• ExAC: 6:89967498 G / A
• gnomAD v2: 6-89967498-G-A
• gnomAD v3: 6-89257779-G-A
• gnomAD v4: 6-89257779-G-A
• MyVariant Identifiers: chr6:g.89967498G>A (hg19) ; chr6:g.89257779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89257779G>A , CM000668.2:g.89257779G>A	GRCh38
NC_000006.11:g.89967498G>A , CM000668.1:g.89967498G>A	GRCh37
NC_000006.10:g.90024217G>A	NCBI36
NG_033977.1:g.62521C>T
NG_033977.2:g.62521C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000402938.4:c.1289C>T MANE Select	ENSP00000386029.4:p.Thr430Met
ENST00000402938.3:c.1289C>T	ENSP00000386029.4:p.Thr430Met
ENST00000602432.1:n.1120C>T
NM_002043.3:c.1289C>T	NP_002034.3:p.Thr430Met
XM_011535713.1:c.1157C>T	XP_011534015.1:p.Thr386Met
XM_011535714.1:c.992C>T	XP_011534016.1:p.Thr331Met
XM_011535715.1:c.992C>T	XP_011534017.1:p.Thr331Met
XM_011535716.1:c.992C>T	XP_011534018.1:p.Thr331Met
XM_011535717.1:c.992C>T	XP_011534019.1:p.Thr331Met
XM_011535718.1:c.992C>T	XP_011534020.1:p.Thr331Met
NM_002043.4:c.1289C>T	NP_002034.3:p.Thr430Met
XM_011535713.2:c.1157C>T	XP_011534015.1:p.Thr386Met
XM_011535714.3:c.992C>T	XP_011534016.1:p.Thr331Met
XM_011535715.3:c.992C>T	XP_011534017.1:p.Thr331Met
XM_011535716.3:c.992C>T	XP_011534018.1:p.Thr331Met
XM_011535717.3:c.992C>T	XP_011534019.1:p.Thr331Met
NM_002043.5:c.1289C>T MANE Select	NP_002034.3:p.Thr430Met