Canonical Allele Identifier: CA447610309

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576241G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149235G>A , CM000667.2:g.162149235G>A	GRCh38
NC_000005.9:g.161576241G>A , CM000667.1:g.161576241G>A	GRCh37
NC_000005.8:g.161508819G>A	NCBI36
NG_009290.1:g.86594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1051G>A
ENST00000361925.9:c.1170G>A	ENSP00000354651.5:p.Leu390=
ENST00000523372.2:c.1133G>A
ENST00000638253.1:n.304G>A
ENST00000638552.1:c.765G>A	ENSP00000491763.1:p.Leu255=
ENST00000638660.1:c.765G>A	ENSP00000492869.1:p.Leu255=
ENST00000638772.1:c.1050G>A	ENSP00000491557.1:p.Leu350=
ENST00000638877.1:c.927G>A
ENST00000639046.1:c.441G>A	ENSP00000492659.1:p.Leu147=
ENST00000639111.2:c.1050G>A	ENSP00000492125.2:p.Leu350=
ENST00000639213.2:c.1050G>A MANE Select	ENSP00000491909.2:p.Leu350=
ENST00000639278.1:c.978G>A	ENSP00000491958.1:p.Leu326=
ENST00000639384.1:c.1050G>A	ENSP00000491240.1:p.Leu350=
ENST00000639424.1:c.*250G>A	ENSP00000491245.1:n.*250G>A
ENST00000639683.1:c.984G>A	ENSP00000492581.1:p.Leu328=
ENST00000639975.1:c.984G>A	ENSP00000492096.1:p.Leu328=
ENST00000640500.1:n.348G>A
ENST00000640574.1:c.765G>A	ENSP00000491582.1:p.Leu255=
ENST00000640739.1:n.3581G>A
ENST00000640910.1:c.488G>A
ENST00000640985.1:c.963G>A	ENSP00000492293.1:p.Leu321=
ENST00000641017.1:c.1050G>A	ENSP00000493461.1:p.Leu350=
ENST00000356592.7:c.1050G>A	ENSP00000349000.3:p.Leu350=
ENST00000361925.8:c.1050G>A	ENSP00000354651.4:p.Leu350=
ENST00000414552.6:c.1170G>A	ENSP00000410732.2:p.Leu390=
ENST00000522990.5:c.*652G>A	ENSP00000430732.1:n.*652G>A
ENST00000523372.1:c.1171G>A	ENSP00000430124.1:n.1171G>A
NM_000816.3:c.1050G>A	NP_000807.2:p.Leu350=
NM_198903.2:c.1170G>A	NP_944493.2:p.Leu390=
NM_198904.2:c.1050G>A	NP_944494.1:p.Leu350=
NM_001375339.1:c.1041G>A	NP_001362268.1:p.Leu347=
NM_001375340.1:c.923-2495G>A	NP_001362269.1:n.923-2495G>A
NM_001375341.1:c.1047G>A	NP_001362270.1:p.Leu349=
NM_001375342.1:c.1047G>A	NP_001362271.1:p.Leu349=
NM_001375343.1:c.1170G>A	NP_001362272.1:p.Leu390=
NM_001375344.1:c.1089G>A	NP_001362273.1:p.Leu363=
NM_001375345.1:c.984G>A	NP_001362274.1:p.Leu328=
NM_001375346.1:c.984G>A	NP_001362275.1:p.Leu328=
NM_001375347.1:c.963G>A	NP_001362276.1:p.Leu321=
NM_001375348.1:c.630G>A	NP_001362277.1:p.Leu210=
NM_001375349.1:c.765G>A	NP_001362278.1:p.Leu255=
NM_001375350.1:c.630G>A	NP_001362279.1:p.Leu210=
NM_198904.3:c.1050G>A	NP_944494.1:p.Leu350=
NM_198904.4:c.1050G>A MANE Select	NP_944494.1:p.Leu350=