Canonical Allele Identifier: CA362183697

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580242T>A (hg19) ; chr5:g.162153236T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153236T>A , CM000667.2:g.162153236T>A	GRCh38
NC_000005.9:g.161580242T>A , CM000667.1:g.161580242T>A	GRCh37
NC_000005.8:g.161512820T>A	NCBI36
NG_009290.1:g.90595T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1297T>A
ENST00000361925.9:c.1392T>A	ENSP00000354651.5:p.Cys464Ter
ENST00000523372.2:c.1355T>A
ENST00000638253.1:n.550T>A
ENST00000638552.1:c.987T>A	ENSP00000491763.1:p.Cys329Ter
ENST00000638660.1:c.1011T>A	ENSP00000492869.1:p.Cys337Ter
ENST00000638772.1:c.*3893T>A	ENSP00000491557.1:n.*3893T>A
ENST00000638877.1:c.1173T>A
ENST00000639046.1:c.663T>A	ENSP00000492659.1:p.Cys221Ter
ENST00000639111.2:c.1272T>A	ENSP00000492125.2:p.Cys424Ter
ENST00000639213.2:c.1296T>A MANE Select	ENSP00000491909.2:p.Cys432Ter
ENST00000639278.1:c.1959T>A	ENSP00000491958.1:n.1959T>A
ENST00000639384.1:c.*1477T>A	ENSP00000491240.1:n.*1477T>A
ENST00000639424.1:c.*496T>A	ENSP00000491245.1:n.*496T>A
ENST00000639683.1:c.1230T>A	ENSP00000492581.1:p.Cys410Ter
ENST00000639975.1:c.1206T>A	ENSP00000492096.1:p.Cys402Ter
ENST00000640500.1:n.570T>A
ENST00000640739.1:n.6243T>A
ENST00000640910.1:c.734T>A
ENST00000640985.1:c.1209T>A	ENSP00000492293.1:p.Cys403Ter
ENST00000641017.1:c.1365T>A	ENSP00000493461.1:p.Cys455Ter
ENST00000356592.7:c.1296T>A	ENSP00000349000.3:p.Cys432Ter
ENST00000361925.8:c.1272T>A	ENSP00000354651.4:p.Cys424Ter
ENST00000414552.6:c.1416T>A	ENSP00000410732.2:p.Cys472Ter
ENST00000522990.5:c.*874T>A	ENSP00000430732.1:n.*874T>A
ENST00000523372.1:c.1393T>A	ENSP00000430124.1:n.1393T>A
NM_000816.3:c.1272T>A	NP_000807.2:p.Cys424Ter
NM_198903.2:c.1416T>A	NP_944493.2:p.Cys472Ter
NM_198904.2:c.1296T>A	NP_944494.1:p.Cys432Ter
NM_001375339.1:c.1287T>A	NP_001362268.1:p.Cys429Ter
NM_001375340.1:c.*130T>A	NP_001362269.1:n.*130T>A
NM_001375341.1:c.1293T>A	NP_001362270.1:p.Cys431Ter
NM_001375342.1:c.1269T>A	NP_001362271.1:p.Cys423Ter
NM_001375343.1:c.1392T>A	NP_001362272.1:p.Cys464Ter
NM_001375344.1:c.1335T>A	NP_001362273.1:p.Cys445Ter
NM_001375345.1:c.1206T>A	NP_001362274.1:p.Cys402Ter
NM_001375346.1:c.1230T>A	NP_001362275.1:p.Cys410Ter
NM_001375347.1:c.1209T>A	NP_001362276.1:p.Cys403Ter
NM_001375348.1:c.852T>A	NP_001362277.1:p.Cys284Ter
NM_001375349.1:c.987T>A	NP_001362278.1:p.Cys329Ter
NM_001375350.1:c.876T>A	NP_001362279.1:p.Cys292Ter
NM_198904.3:c.1296T>A	NP_944494.1:p.Cys432Ter
NM_198904.4:c.1296T>A MANE Select	NP_944494.1:p.Cys432Ter