Canonical Allele Identifier: CA362182495

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576209T>A (hg19) ; chr5:g.162149203T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149203T>A , CM000667.2:g.162149203T>A	GRCh38
NC_000005.9:g.161576209T>A , CM000667.1:g.161576209T>A	GRCh37
NC_000005.8:g.161508787T>A	NCBI36
NG_009290.1:g.86562T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1019T>A
ENST00000361925.9:c.1138T>A	ENSP00000354651.5:p.Ser380Thr
ENST00000523372.2:c.1101T>A
ENST00000638253.1:n.272T>A
ENST00000638552.1:c.733T>A	ENSP00000491763.1:p.Ser245Thr
ENST00000638660.1:c.733T>A	ENSP00000492869.1:p.Ser245Thr
ENST00000638772.1:c.1018T>A	ENSP00000491557.1:p.Ser340Thr
ENST00000638877.1:c.895T>A
ENST00000639046.1:c.409T>A	ENSP00000492659.1:p.Ser137Thr
ENST00000639111.2:c.1018T>A	ENSP00000492125.2:p.Ser340Thr
ENST00000639213.2:c.1018T>A MANE Select	ENSP00000491909.2:p.Ser340Thr
ENST00000639278.1:c.946T>A	ENSP00000491958.1:p.Ser316Thr
ENST00000639384.1:c.1018T>A	ENSP00000491240.1:p.Ser340Thr
ENST00000639424.1:c.*218T>A	ENSP00000491245.1:n.*218T>A
ENST00000639683.1:c.952T>A	ENSP00000492581.1:p.Ser318Thr
ENST00000639975.1:c.952T>A	ENSP00000492096.1:p.Ser318Thr
ENST00000640500.1:n.316T>A
ENST00000640574.1:c.733T>A	ENSP00000491582.1:p.Ser245Thr
ENST00000640739.1:n.3549T>A
ENST00000640910.1:c.456T>A
ENST00000640985.1:c.931T>A	ENSP00000492293.1:p.Ser311Thr
ENST00000641017.1:c.1018T>A	ENSP00000493461.1:p.Ser340Thr
ENST00000356592.7:c.1018T>A	ENSP00000349000.3:p.Ser340Thr
ENST00000361925.8:c.1018T>A	ENSP00000354651.4:p.Ser340Thr
ENST00000414552.6:c.1138T>A	ENSP00000410732.2:p.Ser380Thr
ENST00000522990.5:c.*620T>A	ENSP00000430732.1:n.*620T>A
ENST00000523372.1:c.1139T>A	ENSP00000430124.1:n.1139T>A
NM_000816.3:c.1018T>A	NP_000807.2:p.Ser340Thr
NM_198903.2:c.1138T>A	NP_944493.2:p.Ser380Thr
NM_198904.2:c.1018T>A	NP_944494.1:p.Ser340Thr
NM_001375339.1:c.1009T>A	NP_001362268.1:p.Ser337Thr
NM_001375340.1:c.923-2527T>A	NP_001362269.1:n.923-2527T>A
NM_001375341.1:c.1015T>A	NP_001362270.1:p.Ser339Thr
NM_001375342.1:c.1015T>A	NP_001362271.1:p.Ser339Thr
NM_001375343.1:c.1138T>A	NP_001362272.1:p.Ser380Thr
NM_001375344.1:c.1057T>A	NP_001362273.1:p.Ser353Thr
NM_001375345.1:c.952T>A	NP_001362274.1:p.Ser318Thr
NM_001375346.1:c.952T>A	NP_001362275.1:p.Ser318Thr
NM_001375347.1:c.931T>A	NP_001362276.1:p.Ser311Thr
NM_001375348.1:c.598T>A	NP_001362277.1:p.Ser200Thr
NM_001375349.1:c.733T>A	NP_001362278.1:p.Ser245Thr
NM_001375350.1:c.598T>A	NP_001362279.1:p.Ser200Thr
NM_198904.3:c.1018T>A	NP_944494.1:p.Ser340Thr
NM_198904.4:c.1018T>A MANE Select	NP_944494.1:p.Ser340Thr