Canonical Allele Identifier: CA1083648499

Gene: GABRB2

Linked Data

• dbSNP Id: rs1230038622
• gnomAD v3: 5-161331254-A-G
• gnomAD v4: 5-161331254-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161331254A>G , CM000667.2:g.161331254A>G	GRCh38
NC_000005.9:g.160758261A>G , CM000667.1:g.160758261A>G	GRCh37
NC_000005.8:g.160690839A>G	NCBI36
NG_047050.1:g.221871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.833-127T>C	ENSP00000274547.2:n.833-127T>C
ENST00000393959.6:c.833-127T>C MANE Select	ENSP00000377531.1:n.833-127T>C
ENST00000674514.1:n.915-127T>C
ENST00000675081.1:c.*292-127T>C	ENSP00000502207.1:n.*292-127T>C
ENST00000675303.1:c.833-127T>C	ENSP00000502748.1:n.833-127T>C
ENST00000675381.1:c.581-127T>C	ENSP00000501968.1:n.581-127T>C
ENST00000675746.1:c.83-127T>C	ENSP00000502391.1:n.83-127T>C
ENST00000675773.1:c.833-127T>C	ENSP00000502701.1:n.833-127T>C
ENST00000274547.6:c.833-127T>C	ENSP00000274547.2:n.833-127T>C
ENST00000353437.10:c.833-127T>C	ENSP00000274546.6:n.833-127T>C
ENST00000393959.5:c.833-127T>C	ENSP00000377531.1:n.833-127T>C
ENST00000517547.5:c.353-127T>C	ENSP00000429750.1:n.353-127T>C
ENST00000517901.5:c.644-127T>C	ENSP00000430532.1:n.644-127T>C
ENST00000520240.5:c.833-127T>C	ENSP00000429320.1:n.833-127T>C
ENST00000612710.1:c.644-127T>C	ENSP00000480066.1:n.644-127T>C
NM_000813.2:c.833-127T>C	NP_000804.1:n.833-127T>C
NM_021911.2:c.833-127T>C	NP_068711.1:n.833-127T>C
XM_011534501.1:c.83-127T>C	XP_011532803.1:n.83-127T>C
NM_000813.3:c.833-127T>C	NP_000804.1:n.833-127T>C
NM_001371727.1:c.833-127T>C MANE Select	NP_001358656.1:n.833-127T>C
NM_021911.3:c.833-127T>C	NP_068711.1:n.833-127T>C