Canonical Allele Identifier: CA3543451

Gene: GABRB2

Linked Data

• dbSNP Id: rs768748467
• ExAC: 5:160757968 C / T
• gnomAD v2: 5-160757968-C-T
• gnomAD v4: 5-161330961-C-T
• MyVariant Identifiers: chr5:g.160757968C>T (hg19) ; chr5:g.161330961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161330961C>T , CM000667.2:g.161330961C>T	GRCh38
NC_000005.9:g.160757968C>T , CM000667.1:g.160757968C>T	GRCh37
NC_000005.8:g.160690546C>T	NCBI36
NG_047050.1:g.222164G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.999G>A	ENSP00000274547.2:p.Arg333=
ENST00000393959.6:c.999G>A MANE Select	ENSP00000377531.1:p.Arg333=
ENST00000674514.1:n.1081G>A
ENST00000675081.1:c.*458G>A	ENSP00000502207.1:n.*458G>A
ENST00000675303.1:c.999G>A	ENSP00000502748.1:p.Arg333=
ENST00000675381.1:c.747G>A	ENSP00000501968.1:p.Arg249=
ENST00000675746.1:c.249G>A	ENSP00000502391.1:p.Arg83=
ENST00000675773.1:c.999G>A	ENSP00000502701.1:p.Arg333=
ENST00000274547.6:c.999G>A	ENSP00000274547.2:p.Arg333=
ENST00000353437.10:c.999G>A	ENSP00000274546.6:p.Arg333=
ENST00000393959.5:c.999G>A	ENSP00000377531.1:p.Arg333=
ENST00000517547.5:c.519G>A	ENSP00000429750.1:p.Arg173=
ENST00000517901.5:c.810G>A	ENSP00000430532.1:p.Arg270=
ENST00000520240.5:c.999G>A	ENSP00000429320.1:p.Arg333=
ENST00000612710.1:c.810G>A	ENSP00000480066.1:p.Arg270=
NM_000813.2:c.999G>A	NP_000804.1:p.Arg333=
NM_021911.2:c.999G>A	NP_068711.1:p.Arg333=
XM_011534501.1:c.249G>A	XP_011532803.1:p.Arg83=
NM_000813.3:c.999G>A	NP_000804.1:p.Arg333=
NM_001371727.1:c.999G>A MANE Select	NP_001358656.1:p.Arg333=
NM_021911.3:c.999G>A	NP_068711.1:p.Arg333=