Canonical Allele Identifier: CA131020248

Gene: GABRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161333168C>T , CM000667.2:g.161333168C>T	GRCh38
NC_000005.9:g.160760175C>T , CM000667.1:g.160760175C>T	GRCh37
NC_000005.8:g.160692753C>T	NCBI36
NG_047050.1:g.219957G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001371727.1:c.832+1584G>A MANE Select	NP_001358656.1:n.832+1584G>A
ENST00000393959.6:c.832+1584G>A MANE Select	ENSP00000377531.1:n.832+1584G>A
NM_000813.2:c.832+1584G>A	NP_000804.1:n.832+1584G>A
NM_000813.3:c.832+1584G>A	NP_000804.1:n.832+1584G>A
NM_021911.2:c.832+1584G>A	NP_068711.1:n.832+1584G>A
NM_021911.3:c.832+1584G>A	NP_068711.1:n.832+1584G>A
ENST00000274547.6:c.832+1584G>A	ENSP00000274547.2:n.832+1584G>A
ENST00000274547.7:c.832+1584G>A	ENSP00000274547.2:n.832+1584G>A
ENST00000353437.10:c.832+1584G>A	ENSP00000274546.6:n.832+1584G>A
ENST00000393959.5:c.832+1584G>A	ENSP00000377531.1:n.832+1584G>A
ENST00000517547.5:c.352+1584G>A	ENSP00000429750.1:n.352+1584G>A
ENST00000517901.5:c.643+1584G>A	ENSP00000430532.1:n.643+1584G>A
ENST00000520240.5:c.832+1584G>A	ENSP00000429320.1:n.832+1584G>A
ENST00000612710.1:c.643+1584G>A	ENSP00000480066.1:n.643+1584G>A
ENST00000674514.1:n.914+1584G>A
ENST00000675081.1:c.*291+1584G>A	ENSP00000502207.1:n.*291+1584G>A
ENST00000675303.1:c.832+1584G>A	ENSP00000502748.1:n.832+1584G>A
ENST00000675381.1:c.580+1584G>A	ENSP00000501968.1:n.580+1584G>A
ENST00000675746.1:c.82+1584G>A	ENSP00000502391.1:n.82+1584G>A
ENST00000675773.1:c.832+1584G>A	ENSP00000502701.1:n.832+1584G>A
XM_011534501.1:c.82+1584G>A	XP_011532803.1:n.82+1584G>A