Canonical Allele Identifier: CA362182589

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162149245-G-A
• MyVariant Identifiers: chr5:g.161576251G>A (hg19) ; chr5:g.162149245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149245G>A , CM000667.2:g.162149245G>A	GRCh38
NC_000005.9:g.161576251G>A , CM000667.1:g.161576251G>A	GRCh37
NC_000005.8:g.161508829G>A	NCBI36
NG_009290.1:g.86604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1061G>A
ENST00000361925.9:c.1180G>A	ENSP00000354651.5:p.Gly394Ser
ENST00000523372.2:c.1143G>A
ENST00000638253.1:n.314G>A
ENST00000638552.1:c.775G>A	ENSP00000491763.1:p.Gly259Ser
ENST00000638660.1:c.775G>A	ENSP00000492869.1:p.Gly259Ser
ENST00000638772.1:c.1060G>A	ENSP00000491557.1:p.Gly354Ser
ENST00000638877.1:c.937G>A
ENST00000639046.1:c.451G>A	ENSP00000492659.1:p.Gly151Ser
ENST00000639111.2:c.1060G>A	ENSP00000492125.2:p.Gly354Ser
ENST00000639213.2:c.1060G>A MANE Select	ENSP00000491909.2:p.Gly354Ser
ENST00000639278.1:c.988G>A	ENSP00000491958.1:p.Gly330Ser
ENST00000639384.1:c.1060G>A	ENSP00000491240.1:p.Gly354Ser
ENST00000639424.1:c.*260G>A	ENSP00000491245.1:n.*260G>A
ENST00000639683.1:c.994G>A	ENSP00000492581.1:p.Gly332Ser
ENST00000639975.1:c.994G>A	ENSP00000492096.1:p.Gly332Ser
ENST00000640500.1:n.358G>A
ENST00000640574.1:c.775G>A	ENSP00000491582.1:p.Gly259Ser
ENST00000640739.1:n.3591G>A
ENST00000640910.1:c.498G>A
ENST00000640985.1:c.973G>A	ENSP00000492293.1:p.Gly325Ser
ENST00000641017.1:c.1060G>A	ENSP00000493461.1:p.Gly354Ser
ENST00000356592.7:c.1060G>A	ENSP00000349000.3:p.Gly354Ser
ENST00000361925.8:c.1060G>A	ENSP00000354651.4:p.Gly354Ser
ENST00000414552.6:c.1180G>A	ENSP00000410732.2:p.Gly394Ser
ENST00000522990.5:c.*662G>A	ENSP00000430732.1:n.*662G>A
ENST00000523372.1:c.1181G>A	ENSP00000430124.1:n.1181G>A
NM_000816.3:c.1060G>A	NP_000807.2:p.Gly354Ser
NM_198903.2:c.1180G>A	NP_944493.2:p.Gly394Ser
NM_198904.2:c.1060G>A	NP_944494.1:p.Gly354Ser
NM_001375339.1:c.1051G>A	NP_001362268.1:p.Gly351Ser
NM_001375340.1:c.923-2485G>A	NP_001362269.1:n.923-2485G>A
NM_001375341.1:c.1057G>A	NP_001362270.1:p.Gly353Ser
NM_001375342.1:c.1057G>A	NP_001362271.1:p.Gly353Ser
NM_001375343.1:c.1180G>A	NP_001362272.1:p.Gly394Ser
NM_001375344.1:c.1099G>A	NP_001362273.1:p.Gly367Ser
NM_001375345.1:c.994G>A	NP_001362274.1:p.Gly332Ser
NM_001375346.1:c.994G>A	NP_001362275.1:p.Gly332Ser
NM_001375347.1:c.973G>A	NP_001362276.1:p.Gly325Ser
NM_001375348.1:c.640G>A	NP_001362277.1:p.Gly214Ser
NM_001375349.1:c.775G>A	NP_001362278.1:p.Gly259Ser
NM_001375350.1:c.640G>A	NP_001362279.1:p.Gly214Ser
NM_198904.3:c.1060G>A	NP_944494.1:p.Gly354Ser
NM_198904.4:c.1060G>A MANE Select	NP_944494.1:p.Gly354Ser