Canonical Allele Identifier: CA10588395

Gene: GABRB2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161331051C>A , CM000667.2:g.161331051C>A	GRCh38
NC_000005.9:g.160758058C>A , CM000667.1:g.160758058C>A	GRCh37
NC_000005.8:g.160690636C>A	NCBI36
NG_047050.1:g.222074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.909G>T	ENSP00000274547.2:p.Lys303Asn
ENST00000393959.6:c.909G>T MANE Select	ENSP00000377531.1:p.Lys303Asn
ENST00000674514.1:n.991G>T
ENST00000675081.1:c.*368G>T	ENSP00000502207.1:n.*368G>T
ENST00000675303.1:c.909G>T	ENSP00000502748.1:p.Lys303Asn
ENST00000675381.1:c.657G>T	ENSP00000501968.1:p.Lys219Asn
ENST00000675746.1:c.159G>T	ENSP00000502391.1:p.Lys53Asn
ENST00000675773.1:c.909G>T	ENSP00000502701.1:p.Lys303Asn
ENST00000274547.6:c.909G>T	ENSP00000274547.2:p.Lys303Asn
ENST00000353437.10:c.909G>T	ENSP00000274546.6:p.Lys303Asn
ENST00000393959.5:c.909G>T	ENSP00000377531.1:p.Lys303Asn
ENST00000517547.5:c.429G>T	ENSP00000429750.1:p.Lys143Asn
ENST00000517901.5:c.720G>T	ENSP00000430532.1:p.Lys240Asn
ENST00000520240.5:c.909G>T	ENSP00000429320.1:p.Lys303Asn
ENST00000612710.1:c.720G>T	ENSP00000480066.1:p.Lys240Asn
NM_000813.2:c.909G>T	NP_000804.1:p.Lys303Asn
NM_021911.2:c.909G>T	NP_068711.1:p.Lys303Asn
XM_011534501.1:c.159G>T	XP_011532803.1:p.Lys53Asn
NM_000813.3:c.909G>T	NP_000804.1:p.Lys303Asn
NM_001371727.1:c.909G>T MANE Select	NP_001358656.1:p.Lys303Asn
NM_021911.3:c.909G>T	NP_068711.1:p.Lys303Asn