Canonical Allele Identifier: CA362175256

Gene: GABRB2

Linked Data

• MyVariant Identifiers: chr5:g.160758014A>T (hg19) ; chr5:g.161331007A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161331007A>T , CM000667.2:g.161331007A>T	GRCh38
NC_000005.9:g.160758014A>T , CM000667.1:g.160758014A>T	GRCh37
NC_000005.8:g.160690592A>T	NCBI36
NG_047050.1:g.222118T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274547.7:c.953T>A	ENSP00000274547.2:p.Met318Lys
ENST00000393959.6:c.953T>A MANE Select	ENSP00000377531.1:p.Met318Lys
ENST00000674514.1:n.1035T>A
ENST00000675081.1:c.*412T>A	ENSP00000502207.1:n.*412T>A
ENST00000675303.1:c.953T>A	ENSP00000502748.1:p.Met318Lys
ENST00000675381.1:c.701T>A	ENSP00000501968.1:p.Met234Lys
ENST00000675746.1:c.203T>A	ENSP00000502391.1:p.Met68Lys
ENST00000675773.1:c.953T>A	ENSP00000502701.1:p.Met318Lys
ENST00000274547.6:c.953T>A	ENSP00000274547.2:p.Met318Lys
ENST00000353437.10:c.953T>A	ENSP00000274546.6:p.Met318Lys
ENST00000393959.5:c.953T>A	ENSP00000377531.1:p.Met318Lys
ENST00000517547.5:c.473T>A	ENSP00000429750.1:p.Met158Lys
ENST00000517901.5:c.764T>A	ENSP00000430532.1:p.Met255Lys
ENST00000520240.5:c.953T>A	ENSP00000429320.1:p.Met318Lys
ENST00000612710.1:c.764T>A	ENSP00000480066.1:p.Met255Lys
NM_000813.2:c.953T>A	NP_000804.1:p.Met318Lys
NM_021911.2:c.953T>A	NP_068711.1:p.Met318Lys
XM_011534501.1:c.203T>A	XP_011532803.1:p.Met68Lys
NM_000813.3:c.953T>A	NP_000804.1:p.Met318Lys
NM_001371727.1:c.953T>A MANE Select	NP_001358656.1:p.Met318Lys
NM_021911.3:c.953T>A	NP_068711.1:p.Met318Lys