Canonical Allele Identifier: CA1595983865
Gene: GABRB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161331048G= , CM000667.2:g.161331048G= GRCh38
NC_000005.9:g.160758055G= , CM000667.1:g.160758055G= GRCh37
NC_000005.8:g.160690633G= NCBI36
NG_047050.1:g.222077C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000274547.7:c.912C= ENSP00000274547.2:p.Ala304=
ENST00000393959.6:c.912C= MANE Select ENSP00000377531.1:p.Ala304=
ENST00000674514.1:n.994C=
ENST00000675081.1:c.*371C= ENSP00000502207.1:n.*371C=
ENST00000675303.1:c.912C= ENSP00000502748.1:p.Ala304=
ENST00000675381.1:c.660C= ENSP00000501968.1:p.Ala220=
ENST00000675746.1:c.162C= ENSP00000502391.1:p.Ala54=
ENST00000675773.1:c.912C= ENSP00000502701.1:p.Ala304=
ENST00000274547.6:c.912C= ENSP00000274547.2:p.Ala304=
ENST00000353437.10:c.912C= ENSP00000274546.6:p.Ala304=
ENST00000393959.5:c.912C= ENSP00000377531.1:p.Ala304=
ENST00000517547.5:c.432C= ENSP00000429750.1:p.Ala144=
ENST00000517901.5:c.723C= ENSP00000430532.1:p.Ala241=
ENST00000520240.5:c.912C= ENSP00000429320.1:p.Ala304=
ENST00000612710.1:c.723C= ENSP00000480066.1:p.Ala241=
NM_000813.2:c.912C= NP_000804.1:p.Ala304=
NM_021911.2:c.912C= NP_068711.1:p.Ala304=
XM_011534501.1:c.162C= XP_011532803.1:p.Ala54=
NM_000813.3:c.912C= NP_000804.1:p.Ala304=
NM_001371727.1:c.912C= MANE Select NP_001358656.1:p.Ala304=
NM_021911.3:c.912C= NP_068711.1:p.Ala304=