Canonical Allele Identifier: CA362175201

Gene: GABRB2

Linked Data

• MyVariant Identifiers: chr5:g.160757988T>C (hg19) ; chr5:g.161330981T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161330981T>C , CM000667.2:g.161330981T>C	GRCh38
NC_000005.9:g.160757988T>C , CM000667.1:g.160757988T>C	GRCh37
NC_000005.8:g.160690566T>C	NCBI36
NG_047050.1:g.222144A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.979A>G	ENSP00000274547.2:p.Asn327Asp
ENST00000393959.6:c.979A>G MANE Select	ENSP00000377531.1:p.Asn327Asp
ENST00000674514.1:n.1061A>G
ENST00000675081.1:c.*438A>G	ENSP00000502207.1:n.*438A>G
ENST00000675303.1:c.979A>G	ENSP00000502748.1:p.Asn327Asp
ENST00000675381.1:c.727A>G	ENSP00000501968.1:p.Asn243Asp
ENST00000675746.1:c.229A>G	ENSP00000502391.1:p.Asn77Asp
ENST00000675773.1:c.979A>G	ENSP00000502701.1:p.Asn327Asp
ENST00000274547.6:c.979A>G	ENSP00000274547.2:p.Asn327Asp
ENST00000353437.10:c.979A>G	ENSP00000274546.6:p.Asn327Asp
ENST00000393959.5:c.979A>G	ENSP00000377531.1:p.Asn327Asp
ENST00000517547.5:c.499A>G	ENSP00000429750.1:p.Asn167Asp
ENST00000517901.5:c.790A>G	ENSP00000430532.1:p.Asn264Asp
ENST00000520240.5:c.979A>G	ENSP00000429320.1:p.Asn327Asp
ENST00000612710.1:c.790A>G	ENSP00000480066.1:p.Asn264Asp
NM_000813.2:c.979A>G	NP_000804.1:p.Asn327Asp
NM_021911.2:c.979A>G	NP_068711.1:p.Asn327Asp
XM_011534501.1:c.229A>G	XP_011532803.1:p.Asn77Asp
NM_000813.3:c.979A>G	NP_000804.1:p.Asn327Asp
NM_001371727.1:c.979A>G MANE Select	NP_001358656.1:p.Asn327Asp
NM_021911.3:c.979A>G	NP_068711.1:p.Asn327Asp