Canonical Allele Identifier: CA131019883
Gene: GABRB2 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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