Canonical Allele Identifier: CA364954695

Gene: GABRR2

Linked Data

• dbSNP Id: rs282129
• MyVariant Identifiers: chr6:g.89967498G>C (hg19) ; chr6:g.89257779G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000402938.4:c.1289C>G MANE Select	ENSP00000386029.4:p.Thr430Arg
ENST00000402938.3:c.1289C>G	ENSP00000386029.4:p.Thr430Arg
ENST00000602432.1:n.1120C>G
NM_002043.3:c.1289C>G	NP_002034.3:p.Thr430Arg
XM_011535713.1:c.1157C>G	XP_011534015.1:p.Thr386Arg
XM_011535714.1:c.992C>G	XP_011534016.1:p.Thr331Arg
XM_011535715.1:c.992C>G	XP_011534017.1:p.Thr331Arg
XM_011535716.1:c.992C>G	XP_011534018.1:p.Thr331Arg
XM_011535717.1:c.992C>G	XP_011534019.1:p.Thr331Arg
XM_011535718.1:c.992C>G	XP_011534020.1:p.Thr331Arg
NM_002043.4:c.1289C>G	NP_002034.3:p.Thr430Arg
XM_011535713.2:c.1157C>G	XP_011534015.1:p.Thr386Arg
XM_011535714.3:c.992C>G	XP_011534016.1:p.Thr331Arg
XM_011535715.3:c.992C>G	XP_011534017.1:p.Thr331Arg
XM_011535716.3:c.992C>G	XP_011534018.1:p.Thr331Arg
XM_011535717.3:c.992C>G	XP_011534019.1:p.Thr331Arg
NM_002043.5:c.1289C>G MANE Select	NP_002034.3:p.Thr430Arg