Canonical Allele Identifier: CA362171874

Gene: GABRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161336653T>C , CM000667.2:g.161336653T>C	GRCh38
NC_000005.9:g.160763660T>C , CM000667.1:g.160763660T>C	GRCh37
NC_000005.8:g.160696238T>C	NCBI36
NG_047050.1:g.216472A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001371727.1:c.658A>G MANE Select	NP_001358656.1:p.Lys220Glu
ENST00000393959.6:c.658A>G MANE Select	ENSP00000377531.1:p.Lys220Glu
NM_000813.2:c.658A>G	NP_000804.1:p.Lys220Glu
NM_000813.3:c.658A>G	NP_000804.1:p.Lys220Glu
NM_021911.2:c.658A>G	NP_068711.1:p.Lys220Glu
NM_021911.3:c.658A>G	NP_068711.1:p.Lys220Glu
ENST00000274547.6:c.658A>G	ENSP00000274547.2:p.Lys220Glu
ENST00000274547.7:c.658A>G	ENSP00000274547.2:p.Lys220Glu
ENST00000353437.10:c.658A>G	ENSP00000274546.6:p.Lys220Glu
ENST00000393959.5:c.658A>G	ENSP00000377531.1:p.Lys220Glu
ENST00000517547.5:c.178A>G	ENSP00000429750.1:p.Lys60Glu
ENST00000517901.5:c.469A>G	ENSP00000430532.1:p.Lys157Glu
ENST00000520240.5:c.658A>G	ENSP00000429320.1:p.Lys220Glu
ENST00000612710.1:c.469A>G	ENSP00000480066.1:p.Lys157Glu
ENST00000674514.1:n.740A>G
ENST00000675081.1:c.*117A>G	ENSP00000502207.1:n.*117A>G
ENST00000675303.1:c.658A>G	ENSP00000502748.1:p.Lys220Glu
ENST00000675381.1:c.406A>G	ENSP00000501968.1:p.Lys136Glu
ENST00000675746.1:c.-93A>G	ENSP00000502391.1:n.-93A>G
ENST00000675773.1:c.658A>G	ENSP00000502701.1:p.Lys220Glu
XM_011534501.1:c.-93A>G	XP_011532803.1:n.-93A>G