Canonical Allele Identifier: CA447691599

Gene: GABRB2

Linked Data

• gnomAD v4: 5-161331102-G-T
• MyVariant Identifiers: chr5:g.160758109G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161331102G>T , CM000667.2:g.161331102G>T	GRCh38
NC_000005.9:g.160758109G>T , CM000667.1:g.160758109G>T	GRCh37
NC_000005.8:g.160690687G>T	NCBI36
NG_047050.1:g.222023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.858C>A	ENSP00000274547.2:p.Thr286=
ENST00000393959.6:c.858C>A MANE Select	ENSP00000377531.1:p.Thr286=
ENST00000674514.1:n.940C>A
ENST00000675081.1:c.*317C>A	ENSP00000502207.1:n.*317C>A
ENST00000675303.1:c.858C>A	ENSP00000502748.1:p.Thr286=
ENST00000675381.1:c.606C>A	ENSP00000501968.1:p.Thr202=
ENST00000675746.1:c.108C>A	ENSP00000502391.1:p.Thr36=
ENST00000675773.1:c.858C>A	ENSP00000502701.1:p.Thr286=
ENST00000274547.6:c.858C>A	ENSP00000274547.2:p.Thr286=
ENST00000353437.10:c.858C>A	ENSP00000274546.6:p.Thr286=
ENST00000393959.5:c.858C>A	ENSP00000377531.1:p.Thr286=
ENST00000517547.5:c.378C>A	ENSP00000429750.1:p.Thr126=
ENST00000517901.5:c.669C>A	ENSP00000430532.1:p.Thr223=
ENST00000520240.5:c.858C>A	ENSP00000429320.1:p.Thr286=
ENST00000612710.1:c.669C>A	ENSP00000480066.1:p.Thr223=
NM_000813.2:c.858C>A	NP_000804.1:p.Thr286=
NM_021911.2:c.858C>A	NP_068711.1:p.Thr286=
XM_011534501.1:c.108C>A	XP_011532803.1:p.Thr36=
NM_000813.3:c.858C>A	NP_000804.1:p.Thr286=
NM_001371727.1:c.858C>A MANE Select	NP_001358656.1:p.Thr286=
NM_021911.3:c.858C>A	NP_068711.1:p.Thr286=