Canonical Allele Identifier: CA3543327

Gene: GABRB2

Linked Data

• ClinVar Variation Id: 386175
• ClinVar RCV Id: RCV000902766 ; RCV001704309 ; RCV004022406
• dbSNP Id: rs536960677
• ExAC: 5:160721244 C / T
• gnomAD v2: 5-160721244-C-T
• gnomAD v3: 5-161294237-C-T
• gnomAD v4: 5-161294237-C-T
• COSMIC: COSM1180069 ; COSM1180070
• MyVariant Identifiers: chr5:g.160721244C>T (hg19) ; chr5:g.161294237C>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161294237C>T , CM000667.2:g.161294237C>T	GRCh38
NC_000005.9:g.160721244C>T , CM000667.1:g.160721244C>T	GRCh37
NC_000005.8:g.160653822C>T	NCBI36
NG_047050.1:g.258888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.1383G>A	ENSP00000274547.2:p.Ala461=
ENST00000393959.6:c.1383G>A MANE Select	ENSP00000377531.1:p.Ala461=
ENST00000675081.1:c.*728G>A	ENSP00000502207.1:n.*728G>A
ENST00000675303.1:c.1269G>A	ENSP00000502748.1:p.Ala423=
ENST00000675381.1:c.1017G>A	ENSP00000501968.1:p.Ala339=
ENST00000675746.1:c.519G>A	ENSP00000502391.1:p.Ala173=
ENST00000675773.1:c.1269G>A	ENSP00000502701.1:p.Ala423=
ENST00000274547.6:c.1383G>A	ENSP00000274547.2:p.Ala461=
ENST00000353437.10:c.1269G>A	ENSP00000274546.6:p.Ala423=
ENST00000393959.5:c.1383G>A	ENSP00000377531.1:p.Ala461=
ENST00000517547.5:c.789G>A	ENSP00000429750.1:p.Ala263=
ENST00000517901.5:c.1080G>A	ENSP00000430532.1:p.Ala360=
ENST00000520240.5:c.1269G>A	ENSP00000429320.1:p.Ala423=
NM_000813.2:c.1269G>A	NP_000804.1:p.Ala423=
NM_021911.2:c.1383G>A	NP_068711.1:p.Ala461=
XM_011534501.1:c.633G>A	XP_011532803.1:p.Ala211=
NM_000813.3:c.1269G>A	NP_000804.1:p.Ala423=
NM_001371727.1:c.1383G>A MANE Select	NP_001358656.1:p.Ala461=
NM_021911.3:c.1383G>A	NP_068711.1:p.Ala461=