Canonical Allele Identifier: CA1595983819
Gene: GABRB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161330906T= , CM000667.2:g.161330906T= GRCh38
NC_000005.9:g.160757913T= , CM000667.1:g.160757913T= GRCh37
NC_000005.8:g.160690491T= NCBI36
NG_047050.1:g.222219A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000274547.7:c.1054A= ENSP00000274547.2:p.Lys352=
ENST00000393959.6:c.1054A= MANE Select ENSP00000377531.1:p.Lys352=
ENST00000674514.1:n.1136A=
ENST00000675081.1:c.*513A= ENSP00000502207.1:n.*513A=
ENST00000675303.1:c.1054A= ENSP00000502748.1:p.Lys352=
ENST00000675381.1:c.802A= ENSP00000501968.1:p.Lys268=
ENST00000675746.1:c.304A= ENSP00000502391.1:p.Lys102=
ENST00000675773.1:c.1054A= ENSP00000502701.1:p.Lys352=
ENST00000274547.6:c.1054A= ENSP00000274547.2:p.Lys352=
ENST00000353437.10:c.1054A= ENSP00000274546.6:p.Lys352=
ENST00000393959.5:c.1054A= ENSP00000377531.1:p.Lys352=
ENST00000517547.5:c.574A= ENSP00000429750.1:p.Lys192=
ENST00000517901.5:c.865A= ENSP00000430532.1:p.Lys289=
ENST00000520240.5:c.1054A= ENSP00000429320.1:p.Lys352=
ENST00000612710.1:c.865A= ENSP00000480066.1:p.Lys289=
NM_000813.2:c.1054A= NP_000804.1:p.Lys352=
NM_021911.2:c.1054A= NP_068711.1:p.Lys352=
XM_011534501.1:c.304A= XP_011532803.1:p.Lys102=
NM_000813.3:c.1054A= NP_000804.1:p.Lys352=
NM_001371727.1:c.1054A= MANE Select NP_001358656.1:p.Lys352=
NM_021911.3:c.1054A= NP_068711.1:p.Lys352=