Canonical Allele Identifier: CA362183191

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153100-C-G
• MyVariant Identifiers: chr5:g.161580106C>G (hg19) ; chr5:g.162153100C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153100C>G , CM000667.2:g.162153100C>G	GRCh38
NC_000005.9:g.161580106C>G , CM000667.1:g.161580106C>G	GRCh37
NC_000005.8:g.161512684C>G	NCBI36
NG_009290.1:g.90459C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1161C>G
ENST00000361925.9:c.1256C>G	ENSP00000354651.5:p.Thr419Ser
ENST00000523372.2:c.1219C>G
ENST00000638253.1:n.414C>G
ENST00000638552.1:c.851C>G	ENSP00000491763.1:p.Thr284Ser
ENST00000638660.1:c.875C>G	ENSP00000492869.1:p.Thr292Ser
ENST00000638772.1:c.*3757C>G	ENSP00000491557.1:n.*3757C>G
ENST00000638877.1:c.1037C>G
ENST00000639046.1:c.527C>G	ENSP00000492659.1:p.Thr176Ser
ENST00000639111.2:c.1136C>G	ENSP00000492125.2:p.Thr379Ser
ENST00000639213.2:c.1160C>G MANE Select	ENSP00000491909.2:p.Thr387Ser
ENST00000639278.1:c.1823C>G	ENSP00000491958.1:n.1823C>G
ENST00000639384.1:c.*1341C>G	ENSP00000491240.1:n.*1341C>G
ENST00000639424.1:c.*360C>G	ENSP00000491245.1:n.*360C>G
ENST00000639683.1:c.1094C>G	ENSP00000492581.1:p.Thr365Ser
ENST00000639975.1:c.1070C>G	ENSP00000492096.1:p.Thr357Ser
ENST00000640500.1:n.434C>G
ENST00000640739.1:n.6107C>G
ENST00000640910.1:c.598C>G
ENST00000640985.1:c.1073C>G	ENSP00000492293.1:p.Thr358Ser
ENST00000641017.1:c.1229C>G	ENSP00000493461.1:p.Thr410Ser
ENST00000356592.7:c.1160C>G	ENSP00000349000.3:p.Thr387Ser
ENST00000361925.8:c.1136C>G	ENSP00000354651.4:p.Thr379Ser
ENST00000414552.6:c.1280C>G	ENSP00000410732.2:p.Thr427Ser
ENST00000522990.5:c.*738C>G	ENSP00000430732.1:n.*738C>G
ENST00000523372.1:c.1257C>G	ENSP00000430124.1:n.1257C>G
NM_000816.3:c.1136C>G	NP_000807.2:p.Thr379Ser
NM_198903.2:c.1280C>G	NP_944493.2:p.Thr427Ser
NM_198904.2:c.1160C>G	NP_944494.1:p.Thr387Ser
NM_001375339.1:c.1151C>G	NP_001362268.1:p.Thr384Ser
NM_001375340.1:c.954C>G	NP_001362269.1:p.Tyr318Ter
NM_001375341.1:c.1157C>G	NP_001362270.1:p.Thr386Ser
NM_001375342.1:c.1133C>G	NP_001362271.1:p.Thr378Ser
NM_001375343.1:c.1256C>G	NP_001362272.1:p.Thr419Ser
NM_001375344.1:c.1199C>G	NP_001362273.1:p.Thr400Ser
NM_001375345.1:c.1070C>G	NP_001362274.1:p.Thr357Ser
NM_001375346.1:c.1094C>G	NP_001362275.1:p.Thr365Ser
NM_001375347.1:c.1073C>G	NP_001362276.1:p.Thr358Ser
NM_001375348.1:c.716C>G	NP_001362277.1:p.Thr239Ser
NM_001375349.1:c.851C>G	NP_001362278.1:p.Thr284Ser
NM_001375350.1:c.740C>G	NP_001362279.1:p.Thr247Ser
NM_198904.3:c.1160C>G	NP_944494.1:p.Thr387Ser
NM_198904.4:c.1160C>G MANE Select	NP_944494.1:p.Thr387Ser