Canonical Allele Identifier: CA362173240

Gene: GABRB2

Linked Data

• MyVariant Identifiers: chr5:g.160721234T>A (hg19) ; chr5:g.161294227T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161294227T>A , CM000667.2:g.161294227T>A	GRCh38
NC_000005.9:g.160721234T>A , CM000667.1:g.160721234T>A	GRCh37
NC_000005.8:g.160653812T>A	NCBI36
NG_047050.1:g.258898A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274547.7:c.1393A>T	ENSP00000274547.2:p.Ser465Cys
ENST00000393959.6:c.1393A>T MANE Select	ENSP00000377531.1:p.Ser465Cys
ENST00000675081.1:c.*738A>T	ENSP00000502207.1:n.*738A>T
ENST00000675303.1:c.1279A>T	ENSP00000502748.1:p.Ser427Cys
ENST00000675381.1:c.1027A>T	ENSP00000501968.1:p.Ser343Cys
ENST00000675746.1:c.529A>T	ENSP00000502391.1:p.Ser177Cys
ENST00000675773.1:c.1279A>T	ENSP00000502701.1:p.Ser427Cys
ENST00000274547.6:c.1393A>T	ENSP00000274547.2:p.Ser465Cys
ENST00000353437.10:c.1279A>T	ENSP00000274546.6:p.Ser427Cys
ENST00000393959.5:c.1393A>T	ENSP00000377531.1:p.Ser465Cys
ENST00000517547.5:c.799A>T	ENSP00000429750.1:p.Ser267Cys
ENST00000517901.5:c.1090A>T	ENSP00000430532.1:p.Ser364Cys
ENST00000520240.5:c.1279A>T	ENSP00000429320.1:p.Ser427Cys
NM_000813.2:c.1279A>T	NP_000804.1:p.Ser427Cys
NM_021911.2:c.1393A>T	NP_068711.1:p.Ser465Cys
XM_011534501.1:c.643A>T	XP_011532803.1:p.Ser215Cys
NM_000813.3:c.1279A>T	NP_000804.1:p.Ser427Cys
NM_001371727.1:c.1393A>T MANE Select	NP_001358656.1:p.Ser465Cys
NM_021911.3:c.1393A>T	NP_068711.1:p.Ser465Cys