Canonical Allele Identifier: CA362172157

Gene: GABRB2

Linked Data

• MyVariant Identifiers: chr5:g.160838004T>A (hg19) ; chr5:g.161410998T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161410998T>A , CM000667.2:g.161410998T>A	GRCh38
NC_000005.9:g.160838004T>A , CM000667.1:g.160838004T>A	GRCh37
NC_000005.8:g.160770582T>A	NCBI36
NG_047050.1:g.142127A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.518A>T	ENSP00000274547.2:p.Asn173Ile
ENST00000393959.6:c.518A>T MANE Select	ENSP00000377531.1:p.Asn173Ile
ENST00000674514.1:n.600A>T
ENST00000675081.1:c.266A>T	ENSP00000502207.1:p.Asn89Ile
ENST00000675303.1:c.518A>T	ENSP00000502748.1:p.Asn173Ile
ENST00000675381.1:c.266A>T	ENSP00000501968.1:p.Asn89Ile
ENST00000675773.1:c.518A>T	ENSP00000502701.1:p.Asn173Ile
ENST00000274547.6:c.518A>T	ENSP00000274547.2:p.Asn173Ile
ENST00000353437.10:c.518A>T	ENSP00000274546.6:p.Asn173Ile
ENST00000393959.5:c.518A>T	ENSP00000377531.1:p.Asn173Ile
ENST00000517547.5:c.38A>T	ENSP00000429750.1:p.Asn13Ile
ENST00000517901.5:c.329A>T	ENSP00000430532.1:p.Asn110Ile
ENST00000520240.5:c.518A>T	ENSP00000429320.1:p.Asn173Ile
ENST00000612710.1:c.329A>T	ENSP00000480066.1:p.Asn110Ile
NM_000813.2:c.518A>T	NP_000804.1:p.Asn173Ile
NM_021911.2:c.518A>T	NP_068711.1:p.Asn173Ile
NM_000813.3:c.518A>T	NP_000804.1:p.Asn173Ile
NM_001371727.1:c.518A>T MANE Select	NP_001358656.1:p.Asn173Ile
NM_021911.3:c.518A>T	NP_068711.1:p.Asn173Ile