Canonical Allele Identifier: CA362183582

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580207G>T (hg19) ; chr5:g.162153201G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153201G>T , CM000667.2:g.162153201G>T	GRCh38
NC_000005.9:g.161580207G>T , CM000667.1:g.161580207G>T	GRCh37
NC_000005.8:g.161512785G>T	NCBI36
NG_009290.1:g.90560G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1262G>T
ENST00000361925.9:c.1357G>T	ENSP00000354651.5:p.Asp453Tyr
ENST00000523372.2:c.1320G>T
ENST00000638253.1:n.515G>T
ENST00000638552.1:c.952G>T	ENSP00000491763.1:p.Asp318Tyr
ENST00000638660.1:c.976G>T	ENSP00000492869.1:p.Asp326Tyr
ENST00000638772.1:c.*3858G>T	ENSP00000491557.1:n.*3858G>T
ENST00000638877.1:c.1138G>T
ENST00000639046.1:c.628G>T	ENSP00000492659.1:p.Asp210Tyr
ENST00000639111.2:c.1237G>T	ENSP00000492125.2:p.Asp413Tyr
ENST00000639213.2:c.1261G>T MANE Select	ENSP00000491909.2:p.Asp421Tyr
ENST00000639278.1:c.1924G>T	ENSP00000491958.1:n.1924G>T
ENST00000639384.1:c.*1442G>T	ENSP00000491240.1:n.*1442G>T
ENST00000639424.1:c.*461G>T	ENSP00000491245.1:n.*461G>T
ENST00000639683.1:c.1195G>T	ENSP00000492581.1:p.Asp399Tyr
ENST00000639975.1:c.1171G>T	ENSP00000492096.1:p.Asp391Tyr
ENST00000640500.1:n.535G>T
ENST00000640739.1:n.6208G>T
ENST00000640910.1:c.699G>T
ENST00000640985.1:c.1174G>T	ENSP00000492293.1:p.Asp392Tyr
ENST00000641017.1:c.1330G>T	ENSP00000493461.1:p.Asp444Tyr
ENST00000356592.7:c.1261G>T	ENSP00000349000.3:p.Asp421Tyr
ENST00000361925.8:c.1237G>T	ENSP00000354651.4:p.Asp413Tyr
ENST00000414552.6:c.1381G>T	ENSP00000410732.2:p.Asp461Tyr
ENST00000522990.5:c.*839G>T	ENSP00000430732.1:n.*839G>T
ENST00000523372.1:c.1358G>T	ENSP00000430124.1:n.1358G>T
NM_000816.3:c.1237G>T	NP_000807.2:p.Asp413Tyr
NM_198903.2:c.1381G>T	NP_944493.2:p.Asp461Tyr
NM_198904.2:c.1261G>T	NP_944494.1:p.Asp421Tyr
NM_001375339.1:c.1252G>T	NP_001362268.1:p.Asp418Tyr
NM_001375340.1:c.*95G>T	NP_001362269.1:n.*95G>T
NM_001375341.1:c.1258G>T	NP_001362270.1:p.Asp420Tyr
NM_001375342.1:c.1234G>T	NP_001362271.1:p.Asp412Tyr
NM_001375343.1:c.1357G>T	NP_001362272.1:p.Asp453Tyr
NM_001375344.1:c.1300G>T	NP_001362273.1:p.Asp434Tyr
NM_001375345.1:c.1171G>T	NP_001362274.1:p.Asp391Tyr
NM_001375346.1:c.1195G>T	NP_001362275.1:p.Asp399Tyr
NM_001375347.1:c.1174G>T	NP_001362276.1:p.Asp392Tyr
NM_001375348.1:c.817G>T	NP_001362277.1:p.Asp273Tyr
NM_001375349.1:c.952G>T	NP_001362278.1:p.Asp318Tyr
NM_001375350.1:c.841G>T	NP_001362279.1:p.Asp281Tyr
NM_198904.3:c.1261G>T	NP_944494.1:p.Asp421Tyr
NM_198904.4:c.1261G>T MANE Select	NP_944494.1:p.Asp421Tyr