Canonical Allele Identifier: CA362184285

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580373G>T (hg19) ; chr5:g.162153367G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153367G>T , CM000667.2:g.162153367G>T	GRCh38
NC_000005.9:g.161580373G>T , CM000667.1:g.161580373G>T	GRCh37
NC_000005.8:g.161512951G>T	NCBI36
NG_009290.1:g.90726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1428G>T
ENST00000361925.9:c.1523G>T	ENSP00000354651.5:p.Ter508Leu
ENST00000523372.2:c.1486G>T
ENST00000638253.1:n.681G>T
ENST00000638552.1:c.1118G>T	ENSP00000491763.1:p.Ter373Leu
ENST00000638660.1:c.1142G>T	ENSP00000492869.1:p.Ter381Leu
ENST00000638772.1:c.*4024G>T	ENSP00000491557.1:n.*4024G>T
ENST00000638877.1:c.1304G>T
ENST00000639046.1:c.794G>T	ENSP00000492659.1:p.Ter265Leu
ENST00000639111.2:c.1403G>T	ENSP00000492125.2:p.Ter468Leu
ENST00000639213.2:c.1427G>T MANE Select	ENSP00000491909.2:p.Ter476Leu
ENST00000639278.1:c.2090G>T	ENSP00000491958.1:n.2090G>T
ENST00000639384.1:c.*1608G>T	ENSP00000491240.1:n.*1608G>T
ENST00000639424.1:c.*627G>T	ENSP00000491245.1:n.*627G>T
ENST00000639683.1:c.1361G>T	ENSP00000492581.1:p.Ter454Leu
ENST00000639975.1:c.1337G>T	ENSP00000492096.1:p.Ter446Leu
ENST00000640500.1:n.701G>T
ENST00000640739.1:n.6374G>T
ENST00000640910.1:c.865G>T
ENST00000640985.1:c.1340G>T	ENSP00000492293.1:p.Ter447Leu
ENST00000641017.1:c.1496G>T	ENSP00000493461.1:p.Ter499Leu
ENST00000356592.7:c.1427G>T	ENSP00000349000.3:p.Ter476Leu
ENST00000361925.8:c.1403G>T	ENSP00000354651.4:p.Ter468Leu
ENST00000414552.6:c.1547G>T	ENSP00000410732.2:p.Ter516Leu
ENST00000522990.5:c.*1005G>T	ENSP00000430732.1:n.*1005G>T
ENST00000523372.1:c.1524G>T	ENSP00000430124.1:n.1524G>T
NM_000816.3:c.1403G>T	NP_000807.2:p.Ter468Leu
NM_198903.2:c.1547G>T	NP_944493.2:p.Ter516Leu
NM_198904.2:c.1427G>T	NP_944494.1:p.Ter476Leu
NM_001375339.1:c.1418G>T	NP_001362268.1:p.Ter473Leu
NM_001375340.1:c.*261G>T	NP_001362269.1:n.*261G>T
NM_001375341.1:c.1424G>T	NP_001362270.1:p.Ter475Leu
NM_001375342.1:c.1400G>T	NP_001362271.1:p.Ter467Leu
NM_001375343.1:c.1523G>T	NP_001362272.1:p.Ter508Leu
NM_001375344.1:c.1466G>T	NP_001362273.1:p.Ter489Leu
NM_001375345.1:c.1337G>T	NP_001362274.1:p.Ter446Leu
NM_001375346.1:c.1361G>T	NP_001362275.1:p.Ter454Leu
NM_001375347.1:c.1340G>T	NP_001362276.1:p.Ter447Leu
NM_001375348.1:c.983G>T	NP_001362277.1:p.Ter328Leu
NM_001375349.1:c.1118G>T	NP_001362278.1:p.Ter373Leu
NM_001375350.1:c.1007G>T	NP_001362279.1:p.Ter336Leu
NM_198904.3:c.1427G>T	NP_944494.1:p.Ter476Leu
NM_198904.4:c.1427G>T MANE Select	NP_944494.1:p.Ter476Leu