Canonical Allele Identifier: CA362175255

Gene: GABRB2

Linked Data

• gnomAD v4: 5-161331006-C-T
• MyVariant Identifiers: chr5:g.160758013C>T (hg19) ; chr5:g.161331006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161331006C>T , CM000667.2:g.161331006C>T	GRCh38
NC_000005.9:g.160758013C>T , CM000667.1:g.160758013C>T	GRCh37
NC_000005.8:g.160690591C>T	NCBI36
NG_047050.1:g.222119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.954G>A	ENSP00000274547.2:p.Met318Ile
ENST00000393959.6:c.954G>A MANE Select	ENSP00000377531.1:p.Met318Ile
ENST00000674514.1:n.1036G>A
ENST00000675081.1:c.*413G>A	ENSP00000502207.1:n.*413G>A
ENST00000675303.1:c.954G>A	ENSP00000502748.1:p.Met318Ile
ENST00000675381.1:c.702G>A	ENSP00000501968.1:p.Met234Ile
ENST00000675746.1:c.204G>A	ENSP00000502391.1:p.Met68Ile
ENST00000675773.1:c.954G>A	ENSP00000502701.1:p.Met318Ile
ENST00000274547.6:c.954G>A	ENSP00000274547.2:p.Met318Ile
ENST00000353437.10:c.954G>A	ENSP00000274546.6:p.Met318Ile
ENST00000393959.5:c.954G>A	ENSP00000377531.1:p.Met318Ile
ENST00000517547.5:c.474G>A	ENSP00000429750.1:p.Met158Ile
ENST00000517901.5:c.765G>A	ENSP00000430532.1:p.Met255Ile
ENST00000520240.5:c.954G>A	ENSP00000429320.1:p.Met318Ile
ENST00000612710.1:c.765G>A	ENSP00000480066.1:p.Met255Ile
NM_000813.2:c.954G>A	NP_000804.1:p.Met318Ile
NM_021911.2:c.954G>A	NP_068711.1:p.Met318Ile
XM_011534501.1:c.204G>A	XP_011532803.1:p.Met68Ile
NM_000813.3:c.954G>A	NP_000804.1:p.Met318Ile
NM_001371727.1:c.954G>A MANE Select	NP_001358656.1:p.Met318Ile
NM_021911.3:c.954G>A	NP_068711.1:p.Met318Ile