Canonical Allele Identifier: CA362173211

Gene: GABRB2

Linked Data

• MyVariant Identifiers: chr5:g.160721220T>A (hg19) ; chr5:g.161294213T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161294213T>A , CM000667.2:g.161294213T>A	GRCh38
NC_000005.9:g.160721220T>A , CM000667.1:g.160721220T>A	GRCh37
NC_000005.8:g.160653798T>A	NCBI36
NG_047050.1:g.258912A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274547.7:c.1407A>T	ENSP00000274547.2:p.Arg469Ser
ENST00000393959.6:c.1407A>T MANE Select	ENSP00000377531.1:p.Arg469Ser
ENST00000675081.1:c.*752A>T	ENSP00000502207.1:n.*752A>T
ENST00000675303.1:c.1293A>T	ENSP00000502748.1:p.Arg431Ser
ENST00000675381.1:c.1041A>T	ENSP00000501968.1:p.Arg347Ser
ENST00000675746.1:c.543A>T	ENSP00000502391.1:p.Arg181Ser
ENST00000675773.1:c.1293A>T	ENSP00000502701.1:p.Arg431Ser
ENST00000274547.6:c.1407A>T	ENSP00000274547.2:p.Arg469Ser
ENST00000353437.10:c.1293A>T	ENSP00000274546.6:p.Arg431Ser
ENST00000393959.5:c.1407A>T	ENSP00000377531.1:p.Arg469Ser
ENST00000517547.5:c.813A>T	ENSP00000429750.1:p.Arg271Ser
ENST00000517901.5:c.1104A>T	ENSP00000430532.1:p.Arg368Ser
ENST00000520240.5:c.1293A>T	ENSP00000429320.1:p.Arg431Ser
NM_000813.2:c.1293A>T	NP_000804.1:p.Arg431Ser
NM_021911.2:c.1407A>T	NP_068711.1:p.Arg469Ser
XM_011534501.1:c.657A>T	XP_011532803.1:p.Arg219Ser
NM_000813.3:c.1293A>T	NP_000804.1:p.Arg431Ser
NM_001371727.1:c.1407A>T MANE Select	NP_001358656.1:p.Arg469Ser
NM_021911.3:c.1407A>T	NP_068711.1:p.Arg469Ser