Canonical Allele Identifier: CA357915

Gene: GABRB2

Linked Data

• ClinVar Variation Id: 224810
• ClinVar RCV Id: RCV000210398
• dbSNP Id: rs869312861
• MyVariant Identifiers: chr5:g.160761837G>C (hg19) ; chr5:g.161334830G>C (hg38)
• PubMed: PMID:26350515 ; PMID:27479843

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161334830G>C , CM000667.2:g.161334830G>C	GRCh38
NC_000005.9:g.160761837G>C , CM000667.1:g.160761837G>C	GRCh37
NC_000005.8:g.160694415G>C	NCBI36
NG_047050.1:g.218295C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274547.7:c.754C>G	ENSP00000274547.2:p.Pro252Ala
ENST00000393959.6:c.754C>G MANE Select	ENSP00000377531.1:p.Pro252Ala
ENST00000674514.1:n.836C>G
ENST00000675081.1:c.*213C>G	ENSP00000502207.1:n.*213C>G
ENST00000675303.1:c.754C>G	ENSP00000502748.1:p.Pro252Ala
ENST00000675381.1:c.502C>G	ENSP00000501968.1:p.Pro168Ala
ENST00000675746.1:c.4C>G	ENSP00000502391.1:p.Pro2Ala
ENST00000675773.1:c.754C>G	ENSP00000502701.1:p.Pro252Ala
ENST00000274547.6:c.754C>G	ENSP00000274547.2:p.Pro252Ala
ENST00000353437.10:c.754C>G	ENSP00000274546.6:p.Pro252Ala
ENST00000393959.5:c.754C>G	ENSP00000377531.1:p.Pro252Ala
ENST00000517547.5:c.274C>G	ENSP00000429750.1:p.Pro92Ala
ENST00000517901.5:c.565C>G	ENSP00000430532.1:p.Pro189Ala
ENST00000520240.5:c.754C>G	ENSP00000429320.1:p.Pro252Ala
ENST00000612710.1:c.565C>G	ENSP00000480066.1:p.Pro189Ala
NM_000813.2:c.754C>G	NP_000804.1:p.Pro252Ala
NM_021911.2:c.754C>G	NP_068711.1:p.Pro252Ala
XM_011534501.1:c.4C>G	XP_011532803.1:p.Pro2Ala
NM_000813.3:c.754C>G	NP_000804.1:p.Pro252Ala
NM_001371727.1:c.754C>G MANE Select	NP_001358656.1:p.Pro252Ala
NM_021911.3:c.754C>G	NP_068711.1:p.Pro252Ala