Canonical Allele Identifier: CA362183631

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580227C>A (hg19) ; chr5:g.162153221C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153221C>A , CM000667.2:g.162153221C>A	GRCh38
NC_000005.9:g.161580227C>A , CM000667.1:g.161580227C>A	GRCh37
NC_000005.8:g.161512805C>A	NCBI36
NG_009290.1:g.90580C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1282C>A
ENST00000361925.9:c.1377C>A	ENSP00000354651.5:p.Cys459Ter
ENST00000523372.2:c.1340C>A
ENST00000638253.1:n.535C>A
ENST00000638552.1:c.972C>A	ENSP00000491763.1:p.Cys324Ter
ENST00000638660.1:c.996C>A	ENSP00000492869.1:p.Cys332Ter
ENST00000638772.1:c.*3878C>A	ENSP00000491557.1:n.*3878C>A
ENST00000638877.1:c.1158C>A
ENST00000639046.1:c.648C>A	ENSP00000492659.1:p.Cys216Ter
ENST00000639111.2:c.1257C>A	ENSP00000492125.2:p.Cys419Ter
ENST00000639213.2:c.1281C>A MANE Select	ENSP00000491909.2:p.Cys427Ter
ENST00000639278.1:c.1944C>A	ENSP00000491958.1:n.1944C>A
ENST00000639384.1:c.*1462C>A	ENSP00000491240.1:n.*1462C>A
ENST00000639424.1:c.*481C>A	ENSP00000491245.1:n.*481C>A
ENST00000639683.1:c.1215C>A	ENSP00000492581.1:p.Cys405Ter
ENST00000639975.1:c.1191C>A	ENSP00000492096.1:p.Cys397Ter
ENST00000640500.1:n.555C>A
ENST00000640739.1:n.6228C>A
ENST00000640910.1:c.719C>A
ENST00000640985.1:c.1194C>A	ENSP00000492293.1:p.Cys398Ter
ENST00000641017.1:c.1350C>A	ENSP00000493461.1:p.Cys450Ter
ENST00000356592.7:c.1281C>A	ENSP00000349000.3:p.Cys427Ter
ENST00000361925.8:c.1257C>A	ENSP00000354651.4:p.Cys419Ter
ENST00000414552.6:c.1401C>A	ENSP00000410732.2:p.Cys467Ter
ENST00000522990.5:c.*859C>A	ENSP00000430732.1:n.*859C>A
ENST00000523372.1:c.1378C>A	ENSP00000430124.1:n.1378C>A
NM_000816.3:c.1257C>A	NP_000807.2:p.Cys419Ter
NM_198903.2:c.1401C>A	NP_944493.2:p.Cys467Ter
NM_198904.2:c.1281C>A	NP_944494.1:p.Cys427Ter
NM_001375339.1:c.1272C>A	NP_001362268.1:p.Cys424Ter
NM_001375340.1:c.*115C>A	NP_001362269.1:n.*115C>A
NM_001375341.1:c.1278C>A	NP_001362270.1:p.Cys426Ter
NM_001375342.1:c.1254C>A	NP_001362271.1:p.Cys418Ter
NM_001375343.1:c.1377C>A	NP_001362272.1:p.Cys459Ter
NM_001375344.1:c.1320C>A	NP_001362273.1:p.Cys440Ter
NM_001375345.1:c.1191C>A	NP_001362274.1:p.Cys397Ter
NM_001375346.1:c.1215C>A	NP_001362275.1:p.Cys405Ter
NM_001375347.1:c.1194C>A	NP_001362276.1:p.Cys398Ter
NM_001375348.1:c.837C>A	NP_001362277.1:p.Cys279Ter
NM_001375349.1:c.972C>A	NP_001362278.1:p.Cys324Ter
NM_001375350.1:c.861C>A	NP_001362279.1:p.Cys287Ter
NM_198904.3:c.1281C>A	NP_944494.1:p.Cys427Ter
NM_198904.4:c.1281C>A MANE Select	NP_944494.1:p.Cys427Ter