Canonical Allele Identifier: CA1595983820
Gene: GABRB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161330908T= , CM000667.2:g.161330908T= GRCh38
NC_000005.9:g.160757915T= , CM000667.1:g.160757915T= GRCh37
NC_000005.8:g.160690493T= NCBI36
NG_047050.1:g.222217A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000274547.7:c.1052A= ENSP00000274547.2:p.Glu351=
ENST00000393959.6:c.1052A= MANE Select ENSP00000377531.1:p.Glu351=
ENST00000674514.1:n.1134A=
ENST00000675081.1:c.*511A= ENSP00000502207.1:n.*511A=
ENST00000675303.1:c.1052A= ENSP00000502748.1:p.Glu351=
ENST00000675381.1:c.800A= ENSP00000501968.1:p.Glu267=
ENST00000675746.1:c.302A= ENSP00000502391.1:p.Glu101=
ENST00000675773.1:c.1052A= ENSP00000502701.1:p.Glu351=
ENST00000274547.6:c.1052A= ENSP00000274547.2:p.Glu351=
ENST00000353437.10:c.1052A= ENSP00000274546.6:p.Glu351=
ENST00000393959.5:c.1052A= ENSP00000377531.1:p.Glu351=
ENST00000517547.5:c.572A= ENSP00000429750.1:p.Glu191=
ENST00000517901.5:c.863A= ENSP00000430532.1:p.Glu288=
ENST00000520240.5:c.1052A= ENSP00000429320.1:p.Glu351=
ENST00000612710.1:c.863A= ENSP00000480066.1:p.Glu288=
NM_000813.2:c.1052A= NP_000804.1:p.Glu351=
NM_021911.2:c.1052A= NP_068711.1:p.Glu351=
XM_011534501.1:c.302A= XP_011532803.1:p.Glu101=
NM_000813.3:c.1052A= NP_000804.1:p.Glu351=
NM_001371727.1:c.1052A= MANE Select NP_001358656.1:p.Glu351=
NM_021911.3:c.1052A= NP_068711.1:p.Glu351=