Canonical Allele Identifier: CA1595983276
Community Standard Title: NM_001371727.1(GABRB2):c.1077+1265T=
Gene: GABRB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161329618A= , CM000667.2:g.161329618A= GRCh38
NC_000005.9:g.160756625A= , CM000667.1:g.160756625A= GRCh37
NC_000005.8:g.160689203A= NCBI36
NG_047050.1:g.223507T=

Transcript Alleles

HGVS Amino-acid Change
NM_001371727.1:c.1077+1265T= MANE Select NP_001358656.1:n.1077+1265T=
ENST00000393959.6:c.1077+1265T= MANE Select ENSP00000377531.1:n.1077+1265T=
NM_000813.2:c.1077+1265T= NP_000804.1:n.1077+1265T=
NM_000813.3:c.1077+1265T= NP_000804.1:n.1077+1265T=
NM_021911.2:c.1077+1265T= NP_068711.1:n.1077+1265T=
NM_021911.3:c.1077+1265T= NP_068711.1:n.1077+1265T=
ENST00000274547.6:c.1077+1265T= ENSP00000274547.2:n.1077+1265T=
ENST00000274547.7:c.1077+1265T= ENSP00000274547.2:n.1077+1265T=
ENST00000353437.10:c.1077+1265T= ENSP00000274546.6:n.1077+1265T=
ENST00000393959.5:c.1077+1265T= ENSP00000377531.1:n.1077+1265T=
ENST00000517547.5:c.597+1265T= ENSP00000429750.1:n.597+1265T=
ENST00000517901.5:c.888+1265T= ENSP00000430532.1:n.888+1265T=
ENST00000520240.5:c.1077+1265T= ENSP00000429320.1:n.1077+1265T=
ENST00000612710.1:c.*1211T= ENSP00000480066.1:n.*1211T=
ENST00000674514.1:n.1159+1265T=
ENST00000675081.1:c.*536+1265T= ENSP00000502207.1:n.*536+1265T=
ENST00000675303.1:c.1077+1265T= ENSP00000502748.1:n.1077+1265T=
ENST00000675381.1:c.825+1265T= ENSP00000501968.1:n.825+1265T=
ENST00000675746.1:c.327+1265T= ENSP00000502391.1:n.327+1265T=
ENST00000675773.1:c.1077+1265T= ENSP00000502701.1:n.1077+1265T=
XM_011534501.1:c.327+1265T= XP_011532803.1:n.327+1265T=