Canonical Allele Identifier: CA362183770

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580257G>T (hg19) ; chr5:g.162153251G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153251G>T , CM000667.2:g.162153251G>T	GRCh38
NC_000005.9:g.161580257G>T , CM000667.1:g.161580257G>T	GRCh37
NC_000005.8:g.161512835G>T	NCBI36
NG_009290.1:g.90610G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1312G>T
ENST00000361925.9:c.1407G>T	ENSP00000354651.5:p.Trp469Cys
ENST00000523372.2:c.1370G>T
ENST00000638253.1:n.565G>T
ENST00000638552.1:c.1002G>T	ENSP00000491763.1:p.Trp334Cys
ENST00000638660.1:c.1026G>T	ENSP00000492869.1:p.Trp342Cys
ENST00000638772.1:c.*3908G>T	ENSP00000491557.1:n.*3908G>T
ENST00000638877.1:c.1188G>T
ENST00000639046.1:c.678G>T	ENSP00000492659.1:p.Trp226Cys
ENST00000639111.2:c.1287G>T	ENSP00000492125.2:p.Trp429Cys
ENST00000639213.2:c.1311G>T MANE Select	ENSP00000491909.2:p.Trp437Cys
ENST00000639278.1:c.1974G>T	ENSP00000491958.1:n.1974G>T
ENST00000639384.1:c.*1492G>T	ENSP00000491240.1:n.*1492G>T
ENST00000639424.1:c.*511G>T	ENSP00000491245.1:n.*511G>T
ENST00000639683.1:c.1245G>T	ENSP00000492581.1:p.Trp415Cys
ENST00000639975.1:c.1221G>T	ENSP00000492096.1:p.Trp407Cys
ENST00000640500.1:n.585G>T
ENST00000640739.1:n.6258G>T
ENST00000640910.1:c.749G>T
ENST00000640985.1:c.1224G>T	ENSP00000492293.1:p.Trp408Cys
ENST00000641017.1:c.1380G>T	ENSP00000493461.1:p.Trp460Cys
ENST00000356592.7:c.1311G>T	ENSP00000349000.3:p.Trp437Cys
ENST00000361925.8:c.1287G>T	ENSP00000354651.4:p.Trp429Cys
ENST00000414552.6:c.1431G>T	ENSP00000410732.2:p.Trp477Cys
ENST00000522990.5:c.*889G>T	ENSP00000430732.1:n.*889G>T
ENST00000523372.1:c.1408G>T	ENSP00000430124.1:n.1408G>T
NM_000816.3:c.1287G>T	NP_000807.2:p.Trp429Cys
NM_198903.2:c.1431G>T	NP_944493.2:p.Trp477Cys
NM_198904.2:c.1311G>T	NP_944494.1:p.Trp437Cys
NM_001375339.1:c.1302G>T	NP_001362268.1:p.Trp434Cys
NM_001375340.1:c.*145G>T	NP_001362269.1:n.*145G>T
NM_001375341.1:c.1308G>T	NP_001362270.1:p.Trp436Cys
NM_001375342.1:c.1284G>T	NP_001362271.1:p.Trp428Cys
NM_001375343.1:c.1407G>T	NP_001362272.1:p.Trp469Cys
NM_001375344.1:c.1350G>T	NP_001362273.1:p.Trp450Cys
NM_001375345.1:c.1221G>T	NP_001362274.1:p.Trp407Cys
NM_001375346.1:c.1245G>T	NP_001362275.1:p.Trp415Cys
NM_001375347.1:c.1224G>T	NP_001362276.1:p.Trp408Cys
NM_001375348.1:c.867G>T	NP_001362277.1:p.Trp289Cys
NM_001375349.1:c.1002G>T	NP_001362278.1:p.Trp334Cys
NM_001375350.1:c.891G>T	NP_001362279.1:p.Trp297Cys
NM_198904.3:c.1311G>T	NP_944494.1:p.Trp437Cys
NM_198904.4:c.1311G>T MANE Select	NP_944494.1:p.Trp437Cys