Canonical Allele Identifier: CA1595983883
Community Standard Title: NM_001371727.1(GABRB2):c.867C= (p.Asn289=)
Gene: GABRB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161331093G= , CM000667.2:g.161331093G= GRCh38
NC_000005.9:g.160758100G= , CM000667.1:g.160758100G= GRCh37
NC_000005.8:g.160690678G= NCBI36
NG_047050.1:g.222032C=

Transcript Alleles

HGVS Amino-acid Change
NM_001371727.1:c.867C= MANE Select NP_001358656.1:p.Asn289=
ENST00000393959.6:c.867C= MANE Select ENSP00000377531.1:p.Asn289=
NM_000813.2:c.867C= NP_000804.1:p.Asn289=
NM_000813.3:c.867C= NP_000804.1:p.Asn289=
NM_021911.2:c.867C= NP_068711.1:p.Asn289=
NM_021911.3:c.867C= NP_068711.1:p.Asn289=
ENST00000274547.6:c.867C= ENSP00000274547.2:p.Asn289=
ENST00000274547.7:c.867C= ENSP00000274547.2:p.Asn289=
ENST00000353437.10:c.867C= ENSP00000274546.6:p.Asn289=
ENST00000393959.5:c.867C= ENSP00000377531.1:p.Asn289=
ENST00000517547.5:c.387C= ENSP00000429750.1:p.Asn129=
ENST00000517901.5:c.678C= ENSP00000430532.1:p.Asn226=
ENST00000520240.5:c.867C= ENSP00000429320.1:p.Asn289=
ENST00000612710.1:c.678C= ENSP00000480066.1:p.Asn226=
ENST00000674514.1:n.949C=
ENST00000675081.1:c.*326C= ENSP00000502207.1:n.*326C=
ENST00000675303.1:c.867C= ENSP00000502748.1:p.Asn289=
ENST00000675381.1:c.615C= ENSP00000501968.1:p.Asn205=
ENST00000675746.1:c.117C= ENSP00000502391.1:p.Asn39=
ENST00000675773.1:c.867C= ENSP00000502701.1:p.Asn289=
XM_011534501.1:c.117C= XP_011532803.1:p.Asn39=