Canonical Allele Identifier: CA1595983868
Community Standard Title: NM_001371727.1(GABRB2):c.909G= (p.Lys303=)
Gene: GABRB2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001371727.1:c.909G= MANE Select NP_001358656.1:p.Lys303=
ENST00000393959.6:c.909G= MANE Select ENSP00000377531.1:p.Lys303=
NM_000813.2:c.909G= NP_000804.1:p.Lys303=
NM_000813.3:c.909G= NP_000804.1:p.Lys303=
NM_021911.2:c.909G= NP_068711.1:p.Lys303=
NM_021911.3:c.909G= NP_068711.1:p.Lys303=
ENST00000274547.6:c.909G= ENSP00000274547.2:p.Lys303=
ENST00000274547.7:c.909G= ENSP00000274547.2:p.Lys303=
ENST00000353437.10:c.909G= ENSP00000274546.6:p.Lys303=
ENST00000393959.5:c.909G= ENSP00000377531.1:p.Lys303=
ENST00000517547.5:c.429G= ENSP00000429750.1:p.Lys143=
ENST00000517901.5:c.720G= ENSP00000430532.1:p.Lys240=
ENST00000520240.5:c.909G= ENSP00000429320.1:p.Lys303=
ENST00000612710.1:c.720G= ENSP00000480066.1:p.Lys240=
ENST00000674514.1:n.991G=
ENST00000675081.1:c.*368G= ENSP00000502207.1:n.*368G=
ENST00000675303.1:c.909G= ENSP00000502748.1:p.Lys303=
ENST00000675381.1:c.657G= ENSP00000501968.1:p.Lys219=
ENST00000675746.1:c.159G= ENSP00000502391.1:p.Lys53=
ENST00000675773.1:c.909G= ENSP00000502701.1:p.Lys303=
XM_011534501.1:c.159G= XP_011532803.1:p.Lys53=