Canonical Allele Identifier: CA362171672

Gene: GABRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161334844A>G , CM000667.2:g.161334844A>G	GRCh38
NC_000005.9:g.160761851A>G , CM000667.1:g.160761851A>G	GRCh37
NC_000005.8:g.160694429A>G	NCBI36
NG_047050.1:g.218281T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001371727.1:c.740T>C MANE Select	NP_001358656.1:p.Leu247Pro
ENST00000393959.6:c.740T>C MANE Select	ENSP00000377531.1:p.Leu247Pro
NM_000813.2:c.740T>C	NP_000804.1:p.Leu247Pro
NM_000813.3:c.740T>C	NP_000804.1:p.Leu247Pro
NM_021911.2:c.740T>C	NP_068711.1:p.Leu247Pro
NM_021911.3:c.740T>C	NP_068711.1:p.Leu247Pro
ENST00000274547.6:c.740T>C	ENSP00000274547.2:p.Leu247Pro
ENST00000274547.7:c.740T>C	ENSP00000274547.2:p.Leu247Pro
ENST00000353437.10:c.740T>C	ENSP00000274546.6:p.Leu247Pro
ENST00000393959.5:c.740T>C	ENSP00000377531.1:p.Leu247Pro
ENST00000517547.5:c.260T>C	ENSP00000429750.1:p.Leu87Pro
ENST00000517901.5:c.551T>C	ENSP00000430532.1:p.Leu184Pro
ENST00000520240.5:c.740T>C	ENSP00000429320.1:p.Leu247Pro
ENST00000612710.1:c.551T>C	ENSP00000480066.1:p.Leu184Pro
ENST00000674514.1:n.822T>C
ENST00000675081.1:c.*199T>C	ENSP00000502207.1:n.*199T>C
ENST00000675303.1:c.740T>C	ENSP00000502748.1:p.Leu247Pro
ENST00000675381.1:c.488T>C	ENSP00000501968.1:p.Leu163Pro
ENST00000675746.1:c.-11T>C	ENSP00000502391.1:n.-11T>C
ENST00000675773.1:c.740T>C	ENSP00000502701.1:p.Leu247Pro
XM_011534501.1:c.-11T>C	XP_011532803.1:n.-11T>C